Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
single-minded family bHLH transcription factor 2
Synonyms:
bHLHe15

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Sim2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Sim2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pierre Robin Syndrome
Feeding difficulties in infancy, Neonatal respiratory distress, Cleft palate, Pierre-Robin sequen... OMIM:261800
Isolated Congenital Hypoglossia/Aglossia
Micrognathia, Cleft palate, Feeding difficulties, Nasogastric tube feeding in infancy, Microgloss... ORPHA:141152
Isolated Pierre Robin Syndrome
Micrognathia, Neonatal respiratory distress, Cleft palate, Glossoptosis, Upper airway obstruction ORPHA:718
Perching Syndrome
Feeding difficulties, Respiratory distress, Dysphagia, High palate OMIM:617055
Poirier-Bienvenu Neurodevelopmental Syndrome
Smooth philtrum, Mandibular prognathia, Downturned corners of mouth, Open mouth, Protruding tongue OMIM:618732
Regional Odontodysplasia
Carious teeth, Abnormal dental enamel morphology, Delayed eruption of teeth, Short dental root, A... ORPHA:83450
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Pierre Robin Sequence With Facial And Digital Anomalies
Micrognathia, Cleft palate, Pierre-Robin sequence, Glossoptosis OMIM:311895
Cleft Velum
Cleft soft palate, Velopharyngeal insufficiency, Nasal regurgitation, Poor suck, Oral-pharyngeal ... ORPHA:99772
Orofacial Cleft 13
Micrognathia, Oligodontia, Cleft soft palate, Malar flattening, Retrognathia OMIM:613857
Cleft Lip/Palate
Peg-shaped maxillary lateral incisors, Feeding difficulties in infancy, Cleft palate, Agenesis of... ORPHA:199306
Syngnathia
Cleft palate OMIM:119550
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Dysphagia, High palate, Cleft palate, Respiratory insufficiency, Respiratory failure, Respiratory... OMIM:614399
Geographic And Fissured Tongue
Geographic tongue, Furrowed tongue OMIM:137400
Robin Sequence-Oligodactyly Syndrome
Abnormality of the dentition, Micrognathia, Cleft palate, Glossoptosis ORPHA:3104
Hypoglossia With Situs Inversus
Hypodontia, High palate, Feeding difficulties in infancy, Micrognathia, Microglossia, Upper airwa... OMIM:612776
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Feeding difficulties, Drooling, Gastroesophageal reflux, Protruding tongue, Hypervent... OMIM:614325
Auriculocondylar Syndrome 2
Mandibular condyle aplasia, Micrognathia, Cleft palate, Apnea, Snoring, Glossoptosis, Short mandi... OMIM:614669
Lethal Osteosclerotic Bone Dysplasia
Micrognathia, Median cleft lip and palate, Mandibular aplasia, Gingival overgrowth, Respiratory d... ORPHA:1832
Amelogenesis Imperfecta
Widely spaced teeth, Yellow-brown discoloration of the teeth, Hypomature dental enamel, Hypocalci... ORPHA:88661
Tongue, Pigmented Fungiform Papillae Of
Abnormality of the tongue OMIM:275250
Cerebrocostomandibular Syndrome
Micrognathia, Neonatal respiratory distress, Cleft palate, Feeding difficulties, Glossoptosis, Sh... ORPHA:1393
Facial Abnormalities, Kyphoscoliosis, And Mental Retardation
Macroglossia, Protruding tongue OMIM:227250
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Micrognathia, Pneumonia, Bronchiectasis, Macroglossia, Malar flattening, Malabsorption... OMIM:242860
Cerebrocostomandibular Syndrome
Micrognathia, High palate, Neonatal respiratory distress, Long philtrum, Cleft soft palate, Malar... OMIM:117650
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Pierre Robin Syndrome And Oligodactyly
Micrognathia, Cleft palate, Pierre-Robin sequence OMIM:172880
Auriculocondylar Syndrome 3
Retrognathia, Micrognathia, Bifid uvula, Glossoptosis OMIM:615706
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Alveolar process hypoplasia, Hypodontia, Maxillozygomatic hypoplasia, Malar flattening, Delayed e... ORPHA:2972
Fibromatosis, Gingival, With Distinctive Facies
Irregular dentition, High palate, Delayed eruption of permanent teeth, Everted lower lip vermilio... OMIM:228560
Florid Cemento-Osseous Dysplasia
Abnormal number of teeth, Abnormal cementum morphology, Periapical bone loss, Feeding difficultie... ORPHA:83451
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Gingival overgrowth, Delayed eruption of teeth, Abnormality of dental morphology, Ex... ORPHA:2025
Oligodontia
Agenesis of mandibular premolar, Oligodontia, Delayed eruption of teeth, Short dental root, Agene... ORPHA:99798
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Widely spaced teeth, Dysphagia, Wide mouth, Mandibular prognathia, Feeding difficulties, Poor suc... ORPHA:98795
9q subtelomeric deletion syndrome
Protruding tongue DECIPHER:52
Cleft Palate, Isolated
Micrognathia, Cleft palate, Gingival overgrowth, Increased overbite, Anterior open-bite malocclusion OMIM:119540
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
High palate, Macroglossia, Nasogastric tube feeding in infancy, Respiratory distress, Ventilator ... ORPHA:254864
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth ORPHA:2027
Kleefstra Syndrome 1
Tracheobronchomalacia, U-Shaped upper lip vermilion, Macroglossia, Mandibular prognathia, Malar f... OMIM:610253
Auriculocondylar Syndrome
Mandibular condyle aplasia, Micrognathia, Cleft palate, Dental crowding, Obstructive sleep apnea,... ORPHA:137888
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Dysphagia, Velopharyngeal insufficiency, Nasal regurgitation OMIM:617732
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2222
Robinow Syndrome, Autosomal Dominant 1
Micrognathia, High palate, Dental crowding, Long philtrum, Macroglossia, Gingival overgrowth, Mal... OMIM:180700
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Catifa Syndrome
Cleft palate, Long philtrum, Tooth malposition, Delayed eruption of teeth, Cleft lip, Increased o... OMIM:618761
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cleft palate, Macroglossia, Bifid uvula, Retrognathia, Protruding tongue OMIM:612938
Leukodystrophy, Hypomyelinating, 17
Widely spaced teeth, Mandibular prognathia, Feeding difficulties, Gingival overgrowth, Respirator... OMIM:618006
Van Der Woude Syndrome 2
Cleft upper lip, Cleft palate, Anodontia OMIM:606713
Angelman Syndrome Due To A Point Mutation
Widely spaced teeth, Dysphagia, Wide mouth, Mandibular prognathia, Feeding difficulties, Drooling... ORPHA:411511
Auriculocondylar Syndrome 1
Mandibular condyle aplasia, Micrognathia, Cleft palate, Impaired mastication, Apnea, Snoring, Glo... OMIM:602483
Palatopharyngeal Incompetence
Cleft palate, Velopharyngeal insufficiency OMIM:167500
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Feeding difficulties in infancy, Respiratory insufficiency, Tongue fascicul... ORPHA:238329
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Neonatal respiratory distress, Wide mouth, Gingival overgrowth, Gastrostomy tube feeding in infan... OMIM:618797
Angelman Syndrome
Widely spaced teeth, Feeding difficulties in infancy, Wide mouth, Macroglossia, Mandibular progna... OMIM:105830
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Micrognathia, Cleft palate, Mandibular prognathia, Bifid uvula, Retrognathia, Submucous cleft har... ORPHA:2521
Agnathia-Otocephaly Complex
Micrognathia, Cleft palate, Aglossia, Mandibular aplasia, Microglossia, Respiratory distress, Nar... OMIM:202650
Holoprosencephaly 9
Bilateral cleft lip and palate, Cleft palate, Short philtrum, Cleft upper lip, Solitary median ma... OMIM:610829
Intellectual Developmental Disorder, X-Linked 90
High palate, Malar flattening, Bifid uvula OMIM:300850
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Micrognathia, Stillbirth, Multiple unerupted teeth OMIM:183300
Lowry-Maclean Syndrome
Cleft palate, Delayed eruption of teeth OMIM:600252
Uvula, Bifid
Bifid uvula OMIM:192100
Adducted Thumbs Syndrome
High, narrow palate, Dysphagia, Cleft palate, High palate, Respiratory insufficiency, Velopharyng... OMIM:201550
Cleft Soft Palate
Cleft soft palate OMIM:119570
Congenital Disorder Of Glycosylation, Type Iy
Widely spaced teeth, Micrognathia, Wide mouth, Feeding difficulties, Respiratory distress OMIM:300934
Cleft Palate-Lateral Synechia Syndrome
Micrognathia, Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia ORPHA:2016
Anencephaly 2
Median cleft palate, Median cleft lip, Cleft of alveolar ridge of maxilla OMIM:619452
Pycnodysostosis
Carious teeth, Hypodontia, Delayed eruption of permanent teeth, Micrognathia, Absent frontal sinu... OMIM:265800
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Short hard palate, Anorexia ORPHA:1969
Stickler Syndrome
Feeding difficulties in infancy, Cleft palate, Micrognathia, Open bite, Long philtrum, Macrogloss... ORPHA:828
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Cleft palate OMIM:217150
Solar Urticaria
Wheezing, Abnormal lip morphology, Nausea, Abnormal tongue morphology, Dyspnea ORPHA:97230
Raine Syndrome
Micrognathia, High palate, Cleft palate, Microdontia, Wide mouth, Mandibular prognathia, Neonatal... OMIM:259775
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Widely spaced teeth, Dysphagia, Wide mouth, Mandibular prognathia, Feeding difficulties, Drooling... ORPHA:98794
Cleft Lip With Or Without Cleft Palate
Feeding difficulties, Chronic sinusitis, Non-midline cleft palate, Non-midline cleft lip, Submuco... ORPHA:1991
Developmental And Epileptic Encephalopathy 80
Micrognathia, High palate, Smooth philtrum, Wide mouth, Long philtrum, Feeding difficulties, Tent... OMIM:618580
Dentinogenesis Imperfecta
Yellow-brown discoloration of the teeth, Hypocalcification of dental enamel, Pulp obliteration, G... ORPHA:49042
Microcephaly 26, Primary, Autosomal Dominant
Long philtrum, Feeding difficulties, Gingival overgrowth, Recurrent pneumonia, Protruding tongue,... OMIM:619179
Hypodontia-Dysplasia Of Nails Syndrome
Hypodontia, Delayed eruption of teeth, Conical tooth, Abnormality of dental morphology, Everted l... ORPHA:2228
Van Der Woude Syndrome 1
Hypodontia, Cleft palate, Cleft upper lip, Lower lip pit, Bifid uvula OMIM:119300
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
X-Linked Dystonia-Parkinsonism
Protruding tongue, Aspiration pneumonia, Impaired oropharyngeal swallow response ORPHA:53351
Childhood Apraxia Of Speech
Submucous cleft hard palate, High, narrow palate, Feeding difficulties, Drooling ORPHA:209908
Down Syndrome
Thick lower lip vermilion, Aganglionic megacolon, Microdontia, Macroglossia, Anal atresia, Narrow... ORPHA:870
Gingival Fibromatosis-Hypertrichosis Syndrome
Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2026
Congenital Disorder Of Glycosylation, Type Iie
Micrognathia, Smooth philtrum, Respiratory insufficiency, Feeding difficulties, Decreased liver f... OMIM:608779
Congenital Disorder Of Glycosylation, Type Iu
Micrognathia, Neonatal respiratory distress, High palate, Feeding difficulties, Respiratory distr... OMIM:615042
Omphalocele-Cleft Palate Syndrome, Lethal
Cleft palate, Bifid uvula OMIM:258320
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Micrognathia, Cleft palate, Long philtrum, Malar flattening, Glossoptosis ORPHA:166100
Hemifacial Atrophy, Progressive
Short mandibular rami, Tongue atrophy, Delayed eruption of teeth, Dental malocclusion OMIM:141300
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Amelogenesis imperfecta, Increased overbite, Enamel hypoplasia OMIM:617297
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Dysphagia, Intercostal muscle weakness, Respiratory insufficiency, Macroglossia, Impaired mastica... ORPHA:258
Trehalase Deficiency
Vomiting, Abdominal distention, Malabsorption, Diarrhea, Abdominal pain ORPHA:103909
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Lethal Recessive Chondrodysplasia
Macroglossia, Respiratory distress, Micrognathia ORPHA:1423
Ring Chromosome 22 Syndrome
Protruding tongue, Thick vermilion border, Pleural effusion ORPHA:1446
Catel-Manzke Syndrome
Micrognathia, Cleft palate, Malar flattening, Glossoptosis, Oral synechia ORPHA:1388
X-Linked Centronuclear Myopathy
Feeding difficulties in infancy, High palate, Pneumonia, Respiratory distress, Poor suck, Respira... ORPHA:596
Hereditary Angioedema Type 1
Tongue edema, Dysphagia, Inspiratory stridor, Intestinal edema, Vomiting, Nausea, Abnormality of ... ORPHA:100050
Osteogenesis Imperfecta, Type Xii
Micrognathia, High palate, Malar flattening, Delayed eruption of teeth, Narrow mouth OMIM:613849
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
High palate, Long philtrum, Macroglossia, Retrognathia, Protruding tongue, Dental crowding OMIM:141750
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid uvula OMIM:256200
Dentin Dysplasia, Type I
Microdontia, Periapical bone loss, Pulp obliteration, Abnormality of dental morphology, Taurodont... OMIM:125400
Congenital Disorder Of Glycosylation, Type Iia
Diastema, Wide mouth, Gingival overgrowth, Thin vermilion border, Everted lower lip vermilion, Op... OMIM:212066
Satb2-Associated Syndrome Due To A Pathogenic Variant
Feeding difficulties in infancy, Smooth philtrum, High palate, Cleft palate, Celiac disease, Long... ORPHA:576283
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta OMIM:615887
Icf Syndrome
Macroglossia, Micrognathia, Protruding tongue, Malabsorption ORPHA:2268
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mandibular prognathia, Smooth philtrum, Protruding tongue, Everted lower lip vermilion ORPHA:324410
Ritscher-Schinzel Syndrome 2
Protruding tongue, Short philtrum OMIM:300963
Failure Of Tooth Eruption, Primary
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth OMIM:125350
Marshall-Smith Syndrome
Gingival overgrowth, Open mouth, Retrognathia, Protruding tongue ORPHA:561
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Tongue edema, Respiratory distress, Swollen lip, Upper airway obstruction ORPHA:100057
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Alveolar process hypoplasia, Maxillozygomatic hypoplasia, Eruption failure, Multiple non-erupting... OMIM:273050
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Amelogenesis i... OMIM:204700
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid uvula ORPHA:2669
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Angelman Syndrome
Widely spaced teeth, Dysphagia, Wide mouth, Vomiting, Nasogastric tube feeding, Mandibular progna... ORPHA:72
Puerto Rican Infant Hypotonia Syndrome
High palate, Long philtrum, Abdominal distention, Drooling, Narrow palate, Open mouth, Constipati... OMIM:600096
Bencze Syndrome
Submucous cleft hard palate, Open bite ORPHA:1241
Myasthenic Syndrome, Congenital, 6, Presynaptic
Dysphagia, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respi... OMIM:254210
Otodental Syndrome
Carious teeth, Pulp calcification, Long philtrum, Odontoma, Abnormal dental enamel morphology, Gi... ORPHA:2791
Gigantiform Cementoma, Familial
Cementoma, Tooth malposition, Multiple impacted teeth OMIM:137575
Spastic Paraplegia 81, Autosomal Recessive
Cleft palate, Bifid uvula OMIM:618768
Arthrogryposis, Distal, Type 1C
Cleft palate, High palate, Thin vermilion border, Bifid uvula, Pursed lips, Cleft lip, Narrow mou... OMIM:619110
Peroxisome Biogenesis Disorder 8A (Zellweger)
Feeding difficulties in infancy, Glossoptosis OMIM:614876
Laryngotracheal Angioma
Wheezing, Stridor, Vomiting, Feeding difficulties, Apnea, Cough, Respiratory distress, Intercosta... ORPHA:137935
Down Syndrome
Aganglionic megacolon, Duodenal stenosis, Macroglossia, Malar flattening, Anal atresia, Protrudin... OMIM:190685
Pyle Disease
Carious teeth, Hypoplastic frontal sinuses, Mandibular prognathia, Delayed eruption of teeth, Abs... OMIM:265900
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Feeding difficulties in infancy, Dysphagia, Apneic episodes precipitated by illness, fatigue, str... OMIM:605809
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Cleft palate, Bifid uvula OMIM:303400
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Thick lower lip vermilion, U-Shaped upper lip vermilion, Macroglossia, Malar flattening, Absent f... OMIM:301040
Orofaciodigital Syndrome V
Aganglionic megacolon, Cleft palate, Bifid uvula, Lobulated tongue, Median cleft lip OMIM:174300
Juvenile Sialidosis Type 2
Dysphagia, Gingival overgrowth, Protruding tongue ORPHA:93399
Orofaciodigital Syndrome Type 5
High, narrow palate, Hypodontia, Aganglionic megacolon, Agenesis of canine, Absent cupid's bow, C... ORPHA:2919
Hartnup Disorder
Glossitis OMIM:234500
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Thin upper lip vermilion, Long philtrum OMIM:614741
Diaphanospondylodysostosis
Respiratory distress, Cleft palate ORPHA:66637
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence OMIM:192445
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Hypodontia, Delayed eruption of teeth, Amelogenesis imperfecta OMIM:615905
Chromosome 22Q11.2 Duplication Syndrome
Velopharyngeal insufficiency, High palate, Micrognathia OMIM:608363
Mucopolysaccharidosis, Type Ix
Submucous cleft hard palate, Bifid uvula OMIM:601492
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Oculocerebrofacial Syndrome, Kaufman Type
High, narrow palate, Abnormal lip morphology, Smooth philtrum, Micrognathia, Wide mouth, Microdon... ORPHA:2707
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal dental enamel morphology, Advanced eruption of teeth, Delayed eruption of teeth, Abnorma... ORPHA:1028
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Feeding difficulties in infancy, High palate, Wide mouth, Long philtrum, Delayed eruption of teet... OMIM:618825
Short Stature-Wormian Bones-Dextrocardia Syndrome
Micrognathia, High palate, Abnormality of the philtrum, Delayed eruption of teeth, Anal atresia, ... ORPHA:2863
Bronchopulmonary Dysplasia
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... ORPHA:70589
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Cleft palate, Bifid uvula ORPHA:506353
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Apnea, Protruding tongue, Drooling OMIM:619580
48,Xxyy Syndrome
Carious teeth, Thick lower lip vermilion, Feeding difficulties in infancy, Cleft palate, Open bit... ORPHA:10
Stickler Syndrome, Type Ii
High, narrow palate, Micrognathia, Cleft palate, Pierre-Robin sequence, Malar flattening, Bifid u... OMIM:604841
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Poor suck, Micrognathia OMIM:300580
Leukocyte Adhesion Deficiency Type Ii
Premature loss of teeth, Long upper lip, Mandibular prognathia, Gingival overgrowth, Deep philtru... ORPHA:99843
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Pulp calcification, Taurodontia, Microdontia OMIM:313490
Coffin-Siris Syndrome 11
Feeding difficulties in infancy, High palate, Wide mouth, Cleft soft palate, Esophageal atresia, ... OMIM:618779
Immunodeficiency 33
Hypodontia, Delayed eruption of teeth, Conical tooth OMIM:300636
Ramon Syndrome
Gingival fibromatosis, Narrow palate, Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:3019
Kleefstra Syndrome Due To 9Q34 Microdeletion
Macroglossia, Feeding difficulties, Downturned corners of mouth, Everted lower lip vermilion, Pro... ORPHA:96147
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Delayed eruption of teeth ORPHA:63442
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Nausea, Abdominal distention, Malabsorption, Dyspepsia, Abnormal small intestinal mucos... ORPHA:103907
Epilepsy, Pyridoxine-Dependent
Respiratory distress, Neonatal respiratory distress OMIM:266100
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Micrognathia, Short philtrum, Feeding difficulties, Thin vermilion border, Respiratory distress ORPHA:261304
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Feeding difficulties OMIM:616341
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Dysphagia, Tongue atrophy ORPHA:496689
Joubert Syndrome 1
Central apnea, Triangular-shaped open mouth, Macroglossia, Episodic tachypnea, Neonatal breathing... OMIM:213300
Robinow Syndrome, Autosomal Dominant 2
Micrognathia, Dental crowding, Long philtrum, Cleft soft palate, Gingival overgrowth, Thin upper ... OMIM:616331
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal lip morphology, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Abnormali... ORPHA:2759
Coffin-Siris Syndrome 10
Persistence of primary teeth, Wide mouth OMIM:618506
Burning Mouth Syndrome
Strawberry tongue, Parageusia, Tongue pain, Xerostomia, Abnormality of the gingiva, Burning mouth... ORPHA:353253
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Feeding difficulties, Cleft palate, Respiratory insufficiency, Glossoptosis OMIM:618356
Myotubular Myopathy With Abnormal Genital Development
High palate, Feeding difficulties, Neonatal death, Respiratory distress, Retrognathia, Atelectasis OMIM:300219
Peroxisome Biogenesis Disorder 1A (Zellweger)
High, narrow palate, Micrognathia, High palate, Macroglossia, Malar flattening, Protruding tongue OMIM:214100
Blomstrand Lethal Chondrodysplasia
Micrognathia, Long philtrum, Protuberant abdomen, Malar flattening, Natal tooth, Protruding tongue ORPHA:50945
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Cleft palate, Short philtrum, Mandibular prognathia, Thick upper lip vermilion, Thin upper lip ve... OMIM:226440
Temple Syndrome
Micrognathia, High palate, Cleft palate, Short philtrum, Feeding difficulties, Bifid uvula OMIM:616222
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia OMIM:613382
Bilateral Perisylvian Polymicrogyria
Dysphagia, Micrognathia, Pseudobulbar paralysis, Feeding difficulties, Apnea, Drooling, Aspiratio... ORPHA:98889
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Feeding difficulties OMIM:615595
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Hypodontia, Glossoptosis, Abnormal mandible morphology, Submucous cleft hard... ORPHA:3201
Brown-Vialetto-Van Laere Syndrome 1
Dysphagia, Stridor, Respiratory insufficiency, Respiratory distress, Tongue atrophy, Nocturnal hy... OMIM:211530
Epilepsy, Progressive Myoclonic, 9
Microglossia OMIM:616540
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine OMIM:616868
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Feeding difficulties in infancy, Macroglossia, Protuberant abdomen, Abdominal distention, Respira... ORPHA:226313
Birk-Barel Syndrome
Dysphagia, High palate, Feeding difficulties in infancy, Short philtrum, Bifid uvula, Tented uppe... OMIM:612292
Whistling Face Syndrome, Recessive Form
Micrognathia, High palate, Long philtrum, Microglossia, Whistling appearance, Malar flattening, N... OMIM:277720
Oromandibular Dystonia
Abnormal lip morphology, Dysphagia, Impaired mastication, Respiratory distress, Abnormal mandible... ORPHA:93958
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Carious teeth, Respiratory distress, Protuberant abdomen, Widely spaced teeth OMIM:617102
Facioscapulohumeral Muscular Dystrophy 1
Restrictive ventilatory defect, Dysphagia, Tongue atrophy OMIM:158900
Burn-Mckeown Syndrome
Feeding difficulties in infancy, Cleft palate, Micrognathia, Short philtrum, Cleft upper lip, Man... OMIM:608572
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Vomiting, Bronchiectasis, Dependency on parenteral nutrition, Abdominal distenti... OMIM:619445
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth ORPHA:71267
Infantile-Onset X-Linked Spinal Muscular Atrophy
High palate, Respiratory insufficiency, Respiratory distress, Poor suck, Tongue fasciculations ORPHA:1145
Spondylometaphyseal Dysplasia, Schmidt Type
Micrognathia, Cleft soft palate, Nasogastric tube feeding in infancy, Gastrostomy tube feeding in... ORPHA:93316
Athyreosis
Macroglossia, Feeding difficulties, Abdominal distention, Constipation ORPHA:95713
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Congenital Sialidosis Type 2
Gingival overgrowth, Protruding tongue ORPHA:93400
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Constipation, Delayed eruption of teeth OMIM:614450
Cataract-Intellectual Disability-Hypogonadism Syndrome
Feeding difficulties in infancy, High palate, Micrognathia, Short philtrum, Tooth malposition, Ma... ORPHA:1387
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Tetrasomy 12P
Long philtrum, Thick upper lip vermilion, Delayed eruption of teeth, Anal atresia, Abnormal soft ... ORPHA:884
Dentinogenesis Imperfecta, Shields Type Iii
Periapical bone loss, Anterior open-bite malocclusion, Dentinogenesis imperfecta, Dental enamel p... OMIM:125500
Recurrent Respiratory Papillomatosis
Wheezing, Dysphagia, Stridor, Respiratory insufficiency, Tachypnea, Upper airway obstruction, Res... ORPHA:60032
Fontaine Progeroid Syndrome
Smooth philtrum, Oligodontia, Neonatal death, Thin upper lip vermilion, Micrognathia, Recurrent a... OMIM:612289
Colonic Atresia
Colonic atresia, Abdominal distention OMIM:303650
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Bifid uvula, Feeding difficulties, Submucous cleft hard palate OMIM:619239
Spinocerebellar Ataxia, Autosomal Recessive 20
High palate, Long philtrum, Macroglossia, Delayed eruption of teeth, Broad philtrum, Thick vermil... OMIM:616354
Carey-Fineman-Ziter Syndrome
Dysphagia, Cleft palate, Micrognathia, Pierre-Robin sequence, Respiratory insufficiency, Feeding ... OMIM:254940
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Feeding difficulties in infancy, High palate, Micrognathia, Apnea, Deep philtrum, Tented upper li... ORPHA:314655
Idiopathic Bronchiectasis
Wheezing, Productive cough, Crackles, Abnormal respiratory system physiology, Bronchiectasis, Hal... ORPHA:60033
Brachycephaly, Trichomegaly, And Developmental Delay
Thick lower lip vermilion, High palate, Supernumerary tooth, Thin vermilion border, Bifid uvula, ... OMIM:617412
Thyroid Hemiagenesis
Macroglossia, Abdominal distention, Constipation ORPHA:95719
Qazi-Markouizos Syndrome
High, narrow palate, Abdominal distention, Drooling, Open mouth, Broad philtrum, Hypoplasia of te... ORPHA:3010
Odontochondrodysplasia
Retrognathia, Respiratory distress, Dentinogenesis imperfecta, Delayed eruption of teeth ORPHA:166272
Lethal Omphalocele-Cleft Palate Syndrome
Cleft palate, Cleft soft palate, Bifid uvula, Unilateral cleft lip, Retrognathia ORPHA:2736
Mandibulofacial Dysostosis With Alopecia
Micrognathia, Cleft palate, Glossoptosis, Delayed eruption of primary teeth, Everted lower lip ve... OMIM:616367
Meckel Syndrome, Type 8
Cleft upper lip, Abdominal distention, Cleft palate OMIM:613885
Gaucher Disease Type 2
Respiratory distress, Dysphagia, Cough, Abnormal pattern of respiration ORPHA:77260
Hypertrichosis-Acromegaloid Facial Appearance Syndrome
Gingival overgrowth, Furrowed tongue, Everted lower lip vermilion, Thick vermilion border, Oral s... ORPHA:966
Pleural Mesothelioma
Dysphagia, Abnormal respiratory system physiology, Cough, Respiratory distress, Dyspnea, Pleural ... ORPHA:50251
Oculofaciocardiodental Syndrome
Abnormal palate morphology, Feeding difficulties in infancy, Cleft palate, Oligodontia, Long phil... ORPHA:2712
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Median cleft lip, High palate, Bifid uvula OMIM:155145
Primary Dystonia, Dyt4 Type
Respiratory distress, Dysphagia, Movement abnormality of the tongue, Open mouth ORPHA:98805
X-Linked Hypohidrotic Ectodermal Dysplasia
Everted upper lip vermilion, Microdontia, Delayed eruption of teeth, Everted lower lip vermilion ORPHA:181
Growth Hormone Insensitivity Syndrome
Everted lower lip vermilion, Delayed eruption of teeth, Abnormality of the mouth ORPHA:181393
Cardiocranial Syndrome, Pfeiffer Type
High, narrow palate, Micrognathia, Temporomandibular joint ankylosis, Bifid uvula, Episodic tachy... ORPHA:2872
Cryptogenic Organizing Pneumonia
Wheezing, Hypoxemia, Bronchial breath sound, Anorexia, Crackles, Pneumothorax, Cough, Respiratory... ORPHA:1302
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Diarrhea, Vomiting, Abdominal colic ORPHA:35122
Orofaciodigital Syndrome Type 2
Peg-shaped maxillary lateral incisors, Agenesis of central incisor, Cleft palate, High palate, Mi... ORPHA:2751
Temple-Baraitser Syndrome
Everted upper lip vermilion, High palate, Wide mouth, Long philtrum, Gingival overgrowth, Malar f... ORPHA:420561
Multiple Epiphyseal Dysplasia, Lowry Type
Micrognathia, Cleft hard palate ORPHA:166016
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
Thick lower lip vermilion, Micrognathia, High palate, Wide mouth, U-Shaped upper lip vermilion, V... OMIM:309580
Orofaciodigital Syndrome Iii
Microdontia, Tongue nodules, Supernumerary tooth, Bifid uvula, Bifid tongue OMIM:258850
Zimmermann-Laband Syndrome 3
Thick lower lip vermilion, High palate, Gingival overgrowth, Bifid uvula OMIM:618658
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Feeding difficulties in infancy, Dysphagia, Respiratory insufficiency, Respiratory insufficiency ... ORPHA:254875
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Micrognathia, High palate, Nasogastric tube feeding, Deep philtrum, Respiratory distress, Thin up... ORPHA:329178
Bifid Uvula
Cleft lip, Bifid uvula, Submucous cleft soft palate ORPHA:99771
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypodontia, Delayed eruption of teeth ORPHA:1816
Pontocerebellar Hypoplasia, Type 1B
Feeding difficulties, Respiratory insufficiency, Tongue atrophy, Tongue fasciculations OMIM:614678
Isolated Polycystic Liver Disease
Feeding difficulties in infancy, Respiratory insufficiency, Abdominal distention, Gastrointestina... ORPHA:2924
Moebius Syndrome
Feeding difficulties in infancy, High palate, Dysphagia, Micrognathia, Bifid uvula, Respiratory d... OMIM:157900
Volvulus Of Midgut
Neonatal intestinal obstruction, Abdominal distention, Volvulus, Intestinal malrotation, Constipa... OMIM:193250
Acrofacial Dysostosis, Weyers Type
Hypodontia, Solitary median maxillary central incisor, Advanced eruption of teeth, Conical tooth,... ORPHA:952
Kleefstra Syndrome 2
Bifid uvula, Everted lower lip vermilion OMIM:617768
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Short philtrum, Mandibular prognathia, Abnormal dental enamel morphology, Delayed eruption of tee... ORPHA:2325
Buratti-Harel Syndrome
High palate, Velopharyngeal insufficiency, Bifid uvula, Recurrent pneumonia, Gastroesophageal ref... OMIM:619314
Pulmonary Non-Tuberculous Mycobacterial Infection
Chronic pulmonary obstruction, Crackles, Bronchiectasis, Pneumothorax, Cough, Respiratory distres... ORPHA:411703
Primary Effusion Lymphoma
Dyspnea, Pleural effusion, Abdominal pain, Abdominal distention ORPHA:48686
Faciocardiomelic Dysplasia, Lethal
Micrognathia, Neonatal death, Microglossia, Narrow mouth, Retrognathia OMIM:227270
Tetraamelia Syndrome 2
Micrognathia, Microretrognathia, Glossoptosis, Ankyloglossia, Bilateral cleft lip OMIM:618021
Lipoid Proteinosis
Thick lower lip vermilion, Dysphagia, High palate, Tongue nodules, Abnormality of the gingiva, Mi... ORPHA:530
Severe Acute Respiratory Syndrome
Hypoxemia, Cough, Respiratory distress, Acute infectious pneumonia, Chronic lung disease, Dyspnea... ORPHA:140896
Plummer-Vinson Syndrome
Dysphagia, Cheilitis, Esophageal web, Narrow mouth, Tongue atrophy, Glossitis, Poor appetite, Int... ORPHA:54028
Coffin-Siris Syndrome 3
Macroglossia, Feeding difficulties, Delayed eruption of permanent teeth, Wide mouth OMIM:614608
Ovarian Fibroma
Odontogenic keratocysts of the jaw, Peritonitis, Abdominal distention, Pleural effusion, Abdomina... ORPHA:314473
Congenital Disorder Of Glycosylation, Type Ix
Decreased liver function, Respiratory distress, Feeding difficulties OMIM:615597
Degcags Syndrome
Pyloric stenosis, Smooth philtrum, Oral-pharyngeal dysphagia, Intestinal atresia, Micrognathia, H... OMIM:619488
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Persistence of primary teeth, High palate, Recurrent pneumonia OMIM:147060
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Tachypnea, Respiratory distress, Dyspnea, Atelectasis OMIM:267450
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Feeding difficulties in infancy OMIM:604377
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Gastrointestinal dysmotility, Abdominal distention, Malabsorption, Malnutrition, Abdominal pain, ... OMIM:613662
Atresia Of Small Intestine
Vomiting, Feeding difficulties, Abdominal distention, Jejunal atresia, Intestinal malrotation, In... ORPHA:1201
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth OMIM:180900
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Craniometadiaphyseal Dysplasia
Carious teeth, High palate, Microdontia, Mandibular prognathia, Malar flattening, Wide anterior f... OMIM:269300
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Open bite, Mandibular prognathia, Abnormality of dental eruption, Downturned corners... ORPHA:1327
Synaptic Congenital Myasthenic Syndromes
Dysphagia, Neonatal respiratory distress, High palate, Respiratory insufficiency, Impaired mastic... ORPHA:98915
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Diamond-Blackfan Anemia 6
Micrognathia, Cleft palate, Cleft upper lip, Bifid uvula, Retrognathia, Tracheomalacia OMIM:612561
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Atelectasis, Bronchiectasis OMIM:619466
Pachyonychia Congenita
Feeding difficulties, Advanced eruption of teeth, Angular cheilitis, Respiratory distress, Oral l... ORPHA:2309
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Vomiting, Abdominal distention, Abnormality of enteric ganglion morphology... OMIM:142623
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Pyloric stenosis, Micrognathia, High palate, Cleft palate, Short philtrum, Feeding difficulties, ... ORPHA:96184
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, High palate, Smooth philtrum, Long philtrum, Feeding difficulties, Respirato... OMIM:612863
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Micrognathia, High palate, Supernumerary tooth, Delayed eruption of teeth, Narrow palate, Dental ... OMIM:264475
Anaplastic Thyroid Carcinoma
Dysphagia, Stridor, Cough, Upper airway obstruction, Respiratory distress, Tracheoesophageal fist... ORPHA:142
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Aarskog-Scott Syndrome
Cleft palate, Long philtrum, Cleft upper lip, Delayed eruption of teeth, Everted lower lip vermil... ORPHA:915
Succinic Acidemia
Respiratory distress OMIM:600335
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue ORPHA:2743
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Pyloric stenosis, Feeding difficulties in infancy, Smooth philtrum, Increased size of the mandibl... OMIM:300048
Malaria
Respiratory distress, Nausea and vomiting ORPHA:673
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Feeding difficulties in infancy, High palate, Tented upper lip vermilion, Abnormality of primary ... ORPHA:438216
Anti-Glomerular Basement Membrane Disease
Persistence of primary teeth, Cough, Respiratory insufficiency ORPHA:375
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Mandibular aplasia, Microglossia, Narrow mouth ORPHA:990
Cirrhosis, Familial
Abdominal distention, Pulmonary arterial hypertension, Esophageal varix OMIM:215600
Cardiospondylocarpofacial Syndrome
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth ORPHA:3238
Hydrolethalus
Micrognathia, Cleft palate, Gingival cleft, Bifid uvula, Unilateral cleft lip, Retrognathia, Subm... ORPHA:2189
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Widely spaced teeth, High palate, Wide mouth, Microdontia, Macroglossia, Accessory oral frenulum,... OMIM:266920
Malignant Peritoneal Mesothelioma
Peritonitis, Abdominal distention, Dyspnea, Ileus, Abdominal pain ORPHA:168811
Odontomicronychial Dysplasia
Premature loss of primary teeth, Abnormality of the dentition, Premature eruption of permanent teeth ORPHA:1811
4H Leukodystrophy
Hypodontia, Dysphagia, Drooling, Delayed eruption of teeth, Abnormality of the dentition ORPHA:289494
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Submucous cleft hard palate, Trismus OMIM:609166
Congenital Disorder Of Glycosylation, Type Ie
High, narrow palate, Micrognathia, Smooth philtrum, Respiratory distress OMIM:608799
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Feeding difficulties ORPHA:26792
Fetal Encasement Syndrome
Mandibular aplasia, Protruding tongue OMIM:613630
Frank-Ter Haar Syndrome
Premature loss of teeth, Short philtrum, Wide mouth, Mandibular prognathia, Gingival overgrowth, ... ORPHA:137834
Atypical Pantothenate Kinase-Associated Neurodegeneration
Dysphagia, Tongue atrophy ORPHA:216873
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion OMIM:601957
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Micrognathia, Cleft palate, Glossoptosis, Upper airway obstruction ORPHA:440354
Orofaciodigital Syndrome Vi
Micrognathia, High palate, Cleft palate, Cleft upper lip, Tongue nodules, Accessory oral frenulum OMIM:277170
Mandibulofacial Dysostosis, Guion-Almeida Type
Feeding difficulties in infancy, Cleft palate, Micrognathia, Malar flattening, Esophageal atresia... OMIM:610536
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Crackles, Tachypnea, Cough, Respiratory distress, Acute infectious pneumonia, Restrict... ORPHA:264675
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Hypodontia, High palate, Bifid uvula, Delayed eruption of teeth, Dental malocclusion OMIM:612350
Radio-Renal Syndrome
High, narrow palate, Micrognathia, Respiratory distress, Downturned corners of mouth, Retrognathi... ORPHA:3015
Chitayat Syndrome
Respiratory distress, Tracheomalacia, Thick vermilion border OMIM:617180
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Smooth philtrum, Neonatal respiratory distress, Short philtrum, Mandibular prognathia, Thin vermi... OMIM:618622
Emanuel Syndrome
Dysphagia, High palate, Cleft palate, Ectopic anus, Micrognathia, Long philtrum, Submucous cleft ... ORPHA:96170
Familial Nasal Acilia
Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Respiratory distress, Dyspnea, Atelectasis ORPHA:922
Congenital Myasthenic Syndrome
Respiratory arrest, Dysphagia, High palate, Apneic episodes precipitated by illness, fatigue, str... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Respiratory arrest, Dysphagia, High palate, Apneic episodes precipitated by illness, fatigue, str... ORPHA:98914
Sener Syndrome
Hypodontia, High palate, Smooth philtrum, Delayed eruption of permanent teeth, Wide mouth, Chroni... OMIM:606156
Short Stature, Dauber-Argente Type
Delayed eruption of teeth OMIM:619489
Pai Syndrome
Median cleft lip, Cleft palate, Bifid uvula, Abnormal oral frenulum morphology ORPHA:1993
Cleidocranial Dysplasia
Carious teeth, High, narrow palate, Sinusitis, Cleft palate, Micrognathia, Open bite, Mandibular ... ORPHA:1452
Temple Syndrome
Feeding difficulties, Feeding difficulties in infancy, Bifid uvula, Nasogastric tube feeding ORPHA:254516
Zimmermann-Laband Syndrome
Hypodontia, High palate, Cleft palate, Wide mouth, Micrognathia, Macroglossia, Supernumerary toot... ORPHA:3473
Hall-Riggs Syndrome
Nausea and vomiting, Wide mouth, Abnormal dental enamel morphology, Delayed eruption of teeth, Do... ORPHA:2107
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormal palate morphology, Crowded maxillary incisors, Micrognathia, Anal atresia, Narrow palate... ORPHA:2063
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Micrognathia, Smooth philtrum, Esophageal atresia OMIM:614526
Amish Lethal Microcephaly
Cleft soft palate, Feeding difficulties, Micrognathia ORPHA:99742
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Micrognathia, Neonatal respiratory distress, Cleft palate, Pierre-Robin sequence, Respiratory dis... OMIM:217980
Neuronal Intestinal Pseudoobstruction
Natal tooth, Malabsorption ORPHA:99811
Amelogenesis Imperfecta, Type Ih
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Dental enamel pits, ... OMIM:616221
Double Outlet Right Ventricle
Cleft palate, Tachypnea, Feeding difficulties, Intestinal malrotation, Narrow mouth, Submucous cl... ORPHA:3426
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Micrognathia, Delayed eruption of permanent teeth, Microdontia, Narrow mouth, Open mouth OMIM:619356
Schilbach-Rott Syndrome
Bifid uvula, Micrognathia, Narrow mouth, Submucous cleft hard palate OMIM:164220
Congenital Diaphragmatic Hernia
Hypoxemia, Respiratory distress, Intestinal malrotation ORPHA:2140
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Carious teeth, Micrognathia, Abnormal respiratory system physiology, Laryngotracheomalacia, Gloss... ORPHA:93346
Autosomal Recessive Centronuclear Myopathy
High palate, Respiratory insufficiency, Bifid uvula, Narrow mouth, Retrognathia ORPHA:169186
Diaphanospondylodysostosis
Micrognathia, Cleft palate, Respiratory insufficiency, Protuberant abdomen, Respiratory distress,... OMIM:608022
Nipah Virus Disease
Respiratory distress, Nausea and vomiting, Cough, Anorexia ORPHA:99825
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Pallister-Hall-Like Syndrome
Micrognathia, Cleft palate, Microglossia, Median cleft lip OMIM:241800
Andersen Cardiodysrhythmic Periodic Paralysis
Micrognathia, High palate, Cleft palate, Delayed eruption of permanent teeth, Oligodontia, Malar ... OMIM:170390
Craniosynostosis 2
Cleft soft palate, Supernumerary tooth OMIM:604757
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, High palate OMIM:271225
Osteopathia Striata-Cranial Sclerosis Syndrome
High, narrow palate, Micrognathia, Cleft palate, Bifid uvula, Delayed eruption of teeth, Retrogna... ORPHA:2780
Acquired Hypertrichosis Lanuginosa
Macroglossia, Poor appetite, Glossitis, Chronic diarrhea ORPHA:2221
Deafness-Craniofacial Syndrome
Abnormal palate morphology, Short lingual frenulum, Short philtrum, Bifid tongue, Abnormality of ... ORPHA:3241
Cri-Du-Chat Syndrome
Thick lower lip vermilion, Feeding difficulties in infancy, High palate, Short philtrum, Abnormal... OMIM:123450
Laron Syndrome
Micrognathia, Tooth agenesis, Microdontia, Delayed eruption of teeth ORPHA:633
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Hypodontia, Delayed eruption of teeth, Dysphagia, Oligodontia OMIM:614381
Clark-Baraitser syndrome
Thick lower lip vermilion, Exaggerated median tongue furrow, Maxillary lateral incisor microdonti... OMIM:300602
Orofaciodigital Syndrome Iv
Micrognathia, High palate, Cleft palate, Hamartoma of tongue, Tongue nodules, Accessory oral fren... OMIM:258860
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Smooth philtrum, Cleft palate, Long philtrum, Velopharyngeal insufficiency, Thin vermilion border... OMIM:614701
Emanuel Syndrome
Micrognathia, High palate, Cleft palate, Long philtrum, Feeding difficulties, Broad jaw, Anal atr... OMIM:609029
Orofaciodigital Syndrome Xv
Lobulated tongue OMIM:617127
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Micrognathia, Long philtrum, Abnormal dental ... OMIM:257850
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
High palate, Long philtrum, Feeding difficulties, Tented upper lip vermilion, Respiratory distres... OMIM:619383
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness, Feeding difficulties, Mic... ORPHA:1143
Arthrogryposis, Distal, Type 3
Micrognathia, High palate, Cleft palate, Bifid uvula, Submucous cleft hard palate OMIM:114300
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Cleft upper lip, Cleft palate, Bifid uvula OMIM:300958
Helsmoortel-Van Der Aa Syndrome
Widely spaced teeth, Thick lower lip vermilion, Smooth philtrum, Wide mouth, Long philtrum, Feedi... OMIM:615873
Intestinal Botulism
Nausea and vomiting, Dysphagia, Xerostomia, Respiratory insufficiency due to muscle weakness, Dys... ORPHA:178481
Tularemia
Pneumonia, Cough, Respiratory distress, Oral ulcer, Pleural effusion ORPHA:3392
Limb-Mammary Syndrome
Hypodontia, Cleft palate, Bifid uvula OMIM:603543
Chronic Pneumonitis Of Infancy
Hypoxemia, Tachypnea, Cough, Respiratory distress, Intercostal retractions, Reduced forced vital ... ORPHA:91359
Amelogenesis Imperfecta, Type Iiic
Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion, Hypocalcification of de... OMIM:618386
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Anterior open-bite malocclusi... OMIM:204650
Craniolenticulosutural Dysplasia
Carious teeth, High palate, Smooth philtrum, Microdontia, Wide mouth, Long philtrum, Premature lo... ORPHA:50814
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Hypoxemia, Reduced forced expiratory volume in one second, Pneumonia, Bronchiectasis, Decreased f... ORPHA:1303
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Dyspnea, Abdominal distention OMIM:174050
Cap Polyposis
Colorectal polyposis, Atrophic gastritis, Abdominal distention, Hematochezia, Diarrhea, Abdominal... ORPHA:160148
Interstitial Pneumonitis, Desquamative, Familial
Tachypnea, Respiratory distress, Respiratory failure, Cough OMIM:263000
Cronkhite-Canada Syndrome
Anorexia, Stomach cancer, Furrowed tongue, Malabsorption, Hypogeusia, Intestinal polyposis, Diarr... ORPHA:2930
Acrocraniofacial Dysostosis
Natal tooth, Cleft palate, Micrognathia, Short philtrum OMIM:201050
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Micrognathia, Smooth philtrum, Cleft palate, Long philtrum, Feeding difficulties, Bifid uvula, De... ORPHA:404440
Vertebral Hypersegmentation And Orofacial Anomalies
Unilateral cleft lip, Unilateral cleft palate, Micrognathia, Submucous cleft hard palate OMIM:619122
Aredyld Syndrome
Smooth philtrum, Mandibular prognathia, Abnormal dental enamel morphology, Advanced eruption of t... ORPHA:1133
Odontochondrodysplasia 1
Respiratory distress, Dentinogenesis imperfecta, Delayed eruption of teeth, Long philtrum OMIM:184260
Achondrogenesis, Type Ii
Abdominal distention, Cleft palate, Stillbirth OMIM:200610
Congenital Pancreatic Cyst
Abdominal distention, Anorexia, Abdominal pain, Vomiting ORPHA:313906
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Delayed eruption of teeth OMIM:612463
Congenital Disorder Of Glycosylation, Type Id
High palate, Villous atrophy, Vomiting, Bifid uvula, Diarrhea OMIM:601110
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Neuromuscular dysphagia ORPHA:240085
Coffin-Lowry Syndrome
Widely spaced teeth, Thick lower lip vermilion, Hypodontia, High palate, Feeding difficulties in ... ORPHA:192
Diamond-Blackfan Anemia 10
Respiratory distress, Micrognathia, Cleft palate, Malar flattening OMIM:613309
Momo Syndrome
Thick lower lip vermilion, High palate, Smooth philtrum, Long philtrum, Delayed eruption of teeth... OMIM:157980
Spondyloepiphyseal Dysplasia Congenita
Cleft palate, Pierre-Robin sequence, Malar flattening, Bifid uvula, Respiratory distress, Restric... OMIM:183900
Atkin-Flaitz Syndrome
Thick lower lip vermilion, Exaggerated median tongue furrow, Maxillary lateral incisor microdonti... OMIM:300431
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Hypodontia, Feeding difficulties, Gastrostomy tube feeding in infancy ORPHA:544503
Hypomandibular Faciocranial Dysostosis
Micrognathia, Aglossia, Malar flattening, Pursed lips, Hypoplasia of the maxilla OMIM:241310
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Vomiting OMIM:237310
Ear-Patella-Short Stature Syndrome
High, narrow palate, Micrognathia, Cleft palate, Feeding difficulties, Mandibular aplasia, Bifid ... ORPHA:2554
Kniest Dysplasia
Respiratory distress, Tracheomalacia, Cleft palate, Malar flattening OMIM:156550
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Mandibular prognathia, High palate, Advanced eruption of teeth OMIM:262190
Permanent Congenital Hypothyroidism
Macroglossia, Feeding difficulties, Abdominal distention, Constipation ORPHA:226292
Omphalocele Syndrome, Shprintzen-Goldberg Type
Feeding difficulties in infancy, Neonatal respiratory distress, Anal atresia, Chronic diarrhea, D... ORPHA:3164
Developmental And Speech Delay Due To Sox5 Deficiency
Exaggerated median tongue furrow, Feeding difficulties, Narrow palate, Hyperplasia of the maxilla... ORPHA:313892
W Syndrome
Broad uvula, Agenesis of maxillary central incisor, Upper lip pit, Submucous cleft hard palate ORPHA:2804
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Pulmonary arterial hypertension, Cough, Respiratory distress, Gast... ORPHA:2414
Van Der Woude Syndrome
Abnormal salivary gland morphology, Hypodontia, Cleft palate, Cleft upper lip, Lower lip pit, Lip... ORPHA:888
Cleidocranial Dysplasia
High, narrow palate, Micrognathia, High palate, Cleft palate, Delayed eruption of permanent teeth... OMIM:119600
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Furrowed tongue ORPHA:2928
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Widely spaced teeth, Hypodontia, Cleft palate, Micrognathia, Abnormal dental enamel morphology, D... ORPHA:1071
Rapp-Hodgkin Syndrome
Hypodontia, Cleft palate, Microdontia, Cleft upper lip, Velopharyngeal insufficiency, Bifid uvula... OMIM:129400
Char Syndrome
Short philtrum, Malar flattening, Everted lower lip vermilion, Thick vermilion border, Persistenc... ORPHA:46627
X-Linked Non-Syndromic Intellectual Disability
Pyloric stenosis, Thick lower lip vermilion, Meckel diverticulum, Long philtrum, Drooling, Delaye... ORPHA:777
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Pycnodysostosis
Carious teeth, Hypodontia, High palate, Delayed eruption of permanent teeth, Obstructive sleep ap... ORPHA:763
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, High palate, Pulmonary arterial hypertension OMIM:619272
Folinic Acid-Responsive Seizures
Respiratory distress, Abdominal distention, Apnea ORPHA:79097
Mcdonough Syndrome
Micrognathia, Short philtrum, Mandibular prognathia, Furrowed tongue, Dental malocclusion OMIM:248950
Mohr Syndrome
Agenesis of central incisor, High palate, Cleft palate, Micrognathia, Tongue nodules, Accessory o... OMIM:252100
Native American Myopathy
Micrognathia, High palate, Cleft palate, Respiratory insufficiency, Feeding difficulties, Bifid u... ORPHA:168572
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
High palate, Respiratory insufficiency due to muscle weakness, Decreased liver function, Exertion... OMIM:220110
Achondrogenesis, Type Ib
Stillbirth, Abdominal distention, Malar flattening, Respiratory insufficiency OMIM:600972
Frontometaphyseal Dysplasia 1
High palate, Stridor, Antegonial notching of mandible, Delayed eruption of teeth, Selective tooth... OMIM:305620
Three M Syndrome 2
High palate, Long philtrum, Malar flattening, Delayed eruption of teeth, Thick vermilion border, ... OMIM:612921
Pfeiffer Syndrome Type 2
High palate, Cleft palate, Malar flattening, Intestinal malrotation, Anal atresia, Respiratory di... ORPHA:93259
48,Xxxy Syndrome
Carious teeth, Cleft palate, Open bite, Mandibular prognathia, Abnormal dental enamel morphology,... ORPHA:96263
Autosomal Dominant Hyper-Ige Syndrome
Cleft palate, Cough, Delayed eruption of teeth, Gingivitis, Abnormality of the dentition, Atelect... ORPHA:2314
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Feeding difficulties in infancy, Respiratory insufficiency, Macroglossia, Respiratory insufficien... ORPHA:308552
Stickler Syndrome, Type I
Cleft palate, Pierre-Robin sequence, Malar flattening, Bifid uvula, Submucous cleft hard palate OMIM:108300
Craniolenticulosutural Dysplasia
Carious teeth, Cleft palate, Smooth philtrum, Wide mouth, Long philtrum, Malar flattening, Bifid ... OMIM:607812
Idiopathic Neonatal Atrial Flutter
Tachypnea, Respiratory distress, Feeding difficulties in infancy ORPHA:45452
Craniofaciofrontodigital Syndrome
Pyloric stenosis, Long philtrum, Macroglossia, Gastrointestinal dysmotility, Pulmonary arterial h... ORPHA:363705
Trisomy 8Q
Micrognathia, High palate, Cleft palate, Bifid tongue, Non-midline cleft lip, Everted lower lip v... ORPHA:1752
Thyroid Lymphoma
Dysphagia, Stridor, Upper airway obstruction, Respiratory distress, Dyspnea ORPHA:97285
Pallister W Syndrome
Broad uvula, Agenesis of maxillary central incisor, Agenesis of central incisor, Submucous cleft ... OMIM:311450
Tetrasomy 5P
Micrognathia, High palate, Long philtrum, Pulmonary arterial hypertension, Respiratory distress, ... ORPHA:3309
Avian Influenza
Productive cough, Hypoxemia, Pneumonia, Vomiting, Tachypnea, Pneumothorax, Cough, Respiratory dis... ORPHA:454836
Amelogenesis Imperfecta, Type Iv
Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104510
Mucopolysaccharidosis, Type Ii
Widely spaced teeth, Thick lower lip vermilion, Tracheobronchomalacia, Obstructive sleep apnea, I... OMIM:309900
Ramos-Arroyo Syndrome
Carious teeth, Feeding difficulties in infancy, Aganglionic megacolon, Long philtrum, Xerostomia,... ORPHA:1051
Malan Syndrome
Mandibular prognathia, Narrow mouth, Everted lower lip vermilion, Advanced eruption of teeth OMIM:614753
Esophageal Atresia
Pyloric stenosis, Restrictive ventilatory defect, Feeding difficulties in infancy, Cleft palate, ... ORPHA:1199
Gaucher Disease, Perinatal Lethal
Everted upper lip vermilion, Dysphagia, Micrognathia, Neonatal death, Apnea, Respiratory distress... OMIM:608013
Apert Syndrome
Feeding difficulties in infancy, Cleft palate, Ectopic anus, Respiratory insufficiency, Mandibula... ORPHA:87
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress ORPHA:91130
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Cleft palate, Hypoplasia of the zygomatic bone, Malar flattening, Narrow palate, Respiratory dist... ORPHA:1555
Staphylococcal Necrotizing Pneumonia
Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural empyema, Respiratory distress, Acut... ORPHA:36238
Kleefstra Syndrome
Pyloric stenosis, Macroglossia, Mandibular prognathia, Malar flattening, Advanced eruption of tee... ORPHA:261494
Rodrigues Blindness
Tooth malposition, Nasal flaring OMIM:268320
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Vomiting, Nausea, Feeding difficulties, Reye syndrome-like episodes, Respiratory distress, Poor a... ORPHA:927
1Q41Q42 Microdeletion Syndrome
Cleft palate, Submucous cleft hard palate, Thick vermilion border ORPHA:250999
Sialuria
High palate, Smooth philtrum, Long philtrum, Protuberant abdomen, Sleep apnea, Thin upper lip ver... OMIM:269921
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Respiratory distress, Long philtrum OMIM:617895
Premature Aging Syndrome, Penttinen Type
Hypoplasia of the maxilla, Micrognathia, Thin vermilion border, Delayed eruption of teeth OMIM:601812
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Robin Sequence With Cleft Mandible And Limb Anomalies
High palate, Cleft palate, Pierre-Robin sequence, Feeding difficulties, Bifid uvula, Aplasia of t... OMIM:268305
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Vomiting, Xerostomia, Malabsorption, Glossitis, Diarrhea, Hamartomatous polyposis, Prot... OMIM:175500
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Bilateral cleft lip and palate, Bifid tongue, Micrognathia, Intestinal malrotation ORPHA:2001
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Feeding difficulties, Gastroesophageal reflux OMIM:618426
Cherubism
Alveolar ridge overgrowth, Oligodontia, Multiple impacted teeth, Jaw swelling, Narrow palate, Den... OMIM:118400
Cree Mental Retardation Syndrome
Cleft soft palate, Micrognathia OMIM:606851
49,Xxxxy Syndrome
Carious teeth, Cleft palate, Open bite, Mandibular prognathia, Abnormal dental enamel morphology,... ORPHA:96264
Glucose/Galactose Malabsorption
Chronic diarrhea, Abdominal distention, Malabsorption, Hyperactive bowel sounds OMIM:606824
Trichorhinophalangeal Syndrome, Type I
Carious teeth, Micrognathia, Microdontia, Long philtrum, Delayed eruption of teeth, Deep philtrum... OMIM:190350
Acrootoocular Syndrome
High, narrow palate, Micrognathia, Supernumerary tooth, Delayed eruption of teeth, Dental maloccl... ORPHA:2980
Catel-Manzke Syndrome
Micrognathia, High palate, Cleft palate, Cleft upper lip, Glossoptosis OMIM:616145
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Momo Syndrome
Thick lower lip vermilion, High palate, Smooth philtrum, Long philtrum, Thick upper lip vermilion... ORPHA:2563
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification OMIM:125420
8Q22.1 Microdeletion Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Submucous cleft hard palate, Long philtrum ORPHA:178303
Campomelic Dysplasia
Micrognathia, Cleft palate, Tracheobronchomalacia, Apnea, Respiratory distress, Wide anterior fon... OMIM:114290
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Smooth philtrum, Cleft palate, Long philtrum, Feeding difficulties, Bifid uvula, Anal atresia, Re... OMIM:300968
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Abdominal pain, Respiratory distress, Dyspnea, Cough ORPHA:86812
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Nausea and vomiting, Anorexia, Feeding difficulties, Respiratory distress, Abdominal pain ORPHA:79312
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Pyloric stenosis, High palate, Long philtrum, Impaired mastication, Chronic diarrhea, Wide anteri... ORPHA:457279
Mulibrey Nanism
Hypodontia, Hypoplastic frontal sinuses, Microglossia, Absent frontal sinuses, Enamel hypoplasia,... OMIM:253250
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Dysphagia, Feeding difficulties, Microretrognathia ORPHA:89844
Tremor-Ataxia-Central Hypomyelination Syndrome
Hypodontia, Dysphagia, Oligodontia, Drooling, Delayed eruption of teeth ORPHA:447896
Congenital Tufting Enteropathy
Villous atrophy, Vomiting, Abdominal distention, Malabsorption, Anal atresia, Abnormal small inte... ORPHA:92050
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Thick lower lip vermilion, Wide mouth, Mandibular prognathia, Unilateral cleft lip, Unilateral cl... OMIM:619103
Congenital Disorder Of Glycosylation, Type Ih
Vomiting, Long philtrum, Abdominal distention, Decreased liver function, Diarrhea, Protein-losing... OMIM:608104
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Micrognathia, Submucous cleft hard palate, Bifid uvula, Delayed eruption of teeth, Narrow mouth, ... OMIM:300990
Distal Limb Deficiencies-Micrognathia Syndrome
High palate, Cleft palate, Microdontia, Microglossia, Narrow mouth, Hypoplasia of the maxilla, Mi... ORPHA:1307
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Hypoplastic facial bones, Cleft palate, Respiratory insufficiency, Anal atresia, Bifid tongue, Cl... OMIM:616300
Lelis Syndrome
Carious teeth, Hypodontia, Mandibular prognathia, Furrowed tongue, Abnormality of the mouth ORPHA:140936
Craniometaphyseal Dysplasia, Autosomal Recessive
Mandibular prognathia, Broad alveolar ridges, Delayed eruption of permanent teeth, Facial hyperos... OMIM:218400
Sotos Syndrome
High, narrow palate, High palate, Mandibular prognathia, Advanced eruption of teeth, Narrow palate OMIM:117550
Hypoglossia-Hypodactyly Syndrome
Hypodontia, High palate, Cleft palate, Feeding difficulties in infancy, Micrognathia, Aplasia/Hyp... ORPHA:989
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Ameloonychohypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Marked delay in eruption of permanent teeth, Hypocalcifi... OMIM:104570
Meconium Aspiration Syndrome
Wheezing, Hypoxemia, Atelectasis, Pneumothorax, Pulmonary arterial hypertension, Respiratory dist... ORPHA:70588
Achondrogenesis Type 1A
Abdominal distention, Micrognathia, Long philtrum ORPHA:93299
Mercury Poisoning
Anorexia, Interstitial pneumonitis, Nausea, Episodic abdominal pain, Respiratory distress, Respir... ORPHA:330021
Osteopetrosis, Autosomal Recessive 2
Carious teeth, Mandibular prognathia, Chronic rhinitis due to narrow nasal airway, Mandibular ost... OMIM:259710
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Dysphagia ORPHA:240103
Weismann-Netter Syndrome
Delayed eruption of permanent teeth OMIM:112350
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Feeding difficulties OMIM:616733
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
High, narrow palate, Short philtrum, Delayed eruption of teeth, Taurodontia, Macrodontia ORPHA:3214
Acquired Methemoglobinemia
Hypoxemia, Vomiting, Respiratory distress, Dyspnea, Abdominal pain ORPHA:464453
Dysosteosclerosis
Micrognathia, High palate, Premature loss of teeth, Obstructive sleep apnea, Oligodontia, Delayed... OMIM:224300
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Feeding difficulties in infancy, High palate, Micrognathia, Eruption failure, Long philtrum, Gast... ORPHA:476126
Laryngeal Web, Familial
Respiratory distress, Stridor OMIM:150360
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Feeding difficulties in infancy, High palate, Respiratory insufficiency, Apnea, Narrow palate, Re... OMIM:608836
Lowry-Maclean Syndrome
Pyloric stenosis, High, narrow palate, Midgut malrotation, Cleft palate, Micrognathia, Talon cusp... ORPHA:2409
Pseudohypoparathyroidism Type 1B
Dyspnea, Enamel hypoplasia, Delayed eruption of teeth, Abdominal symptom ORPHA:94089
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Nonspecific interstitial pneumoni... OMIM:610913
Beare-Stevenson Cutis Gyrata Syndrome
Feeding difficulties in infancy, Malar flattening, Narrow palate, Respiratory distress, Narrow mo... OMIM:123790
Familial Isolated Hypoparathyroidism
Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:2238
Brachydactyly, Type B1
Wide anterior fontanel, Delayed eruption of permanent teeth OMIM:113000
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Tachypnea, Parasept... OMIM:610921
Tetanus
Dysphagia, Tachypnea, Respiratory distress, Bowel incontinence, Abdominal pain, Trismus ORPHA:3299
Chromosome 13Q33-Q34 Deletion Syndrome
Pyloric stenosis, Irregular dentition, High palate, Micrognathia, Short philtrum, Gingival overgr... OMIM:619148
Prader-Willi Syndrome Due To Translocation
Carious teeth, Feeding difficulties in infancy, High palate, Cleft palate, Wide mouth, Triangular... ORPHA:177907
Smith-Magenis Syndrome
Feeding difficulties in infancy, Cleft palate, Micrognathia, Short philtrum, Cleft upper lip, Man... ORPHA:819
Marbach-Rustad Progeroid Syndrome
Hypodontia, Smooth philtrum, Micrognathia, Eruption failure, Delayed eruption of primary teeth, N... OMIM:619322
Charcot-Marie-Tooth Disease, Type 4C
Tongue atrophy, Tongue fasciculations OMIM:601596
Hereditary Folate Malabsorption
Nausea and vomiting, Anorexia, Cheilitis, Glossitis, Diarrhea, Gastroesophageal reflux ORPHA:90045
Hypoglossia-Hypodactylia
Micrognathia, Aglossia, Microglossia, Narrow mouth, Retrognathia OMIM:103300
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
High palate, Recurrent aspiration pneumonia, Bifid uvula, Recurrent pneumonia, Retrognathia, Chro... OMIM:300472
Renal Dysplasia-Limb Defects Syndrome
Micrognathia, High palate, Pneumothorax, Neonatal death, Thin vermilion border, Respiratory distr... OMIM:266910
Acute Lung Injury
Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Respiratory failure, Dyspnea ORPHA:178320
Seckel Syndrome 2
Micrognathia, Microglossia, Microdontia OMIM:606744
Mogs-Cdg
High palate, Nasogastric tube feeding, Apnea, Respiratory distress, Hypoventilation, Retrognathia...