Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
PR domain containing 16
Synonyms:
5730557K01Rik,  Mel1,  line 27,  csp1

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 Prdm16 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.

The table below shows human diseases associated to Prdm16 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Isolated Dilated Cardiomyopathy
Orthopnea, Dilated cardiomyopathy, Exertional dyspnea ORPHA:154
1P36 Deletion Syndrome
Narrow mouth, Cryptorchidism, Abnormal intestine morphology, Feeding difficulties in infancy, Sho... ORPHA:1606
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:615373

The table below shows human diseases predicted to be associated to Prdm16 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Syngnathia
Cleft palate OMIM:119550
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Cleft Soft Palate
Cleft soft palate OMIM:119570
Uvula, Bifid
Bifid uvula OMIM:192100
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Pierre Robin Syndrome
Cor pulmonale, Neonatal respiratory distress, Micrognathia, Feeding difficulties in infancy, Glos... OMIM:261800
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Microglossia, Aspiration pneumonia, Respiratory distress, Temporom... ORPHA:141152
Microphthalmia, Syndromic 12
Wide nasal bridge, Hypoplastic left atrium, Broad nasal tip, Retrognathia, Intestinal malrotation... OMIM:615524
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Retrognathia, Respiratory distress, Anteverted nares, Gingival overgrowth,... ORPHA:1832
9q subtelomeric deletion syndrome
Abnormal heart morphology, Protruding tongue, Short nose DECIPHER:52
Bowen-Conradi Syndrome
Ventriculomegaly, Abnormal lung lobation, Camptodactyly of finger, Prominent nose, Micrognathia, ... ORPHA:1270
Bifid Uvula
Bifid uvula, Cleft lip, Submucous cleft soft palate ORPHA:99771
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Ventriculomegaly, Micrognathia, Knee flexion contracture, A... OMIM:616531
Isolated Pierre Robin Syndrome
Neonatal respiratory distress, Glossoptosis, Cleft palate ORPHA:718
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Depressed nasal bridge, Diarrhea, Anteverted nares, Micrognathia, Malabsorption, Protr... OMIM:242860
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Pallister-Hall-Like Syndrome
Depressed nasal bridge, Microglossia, Micromelia, Micrognathia, Death in infancy, Short ribs, Med... OMIM:241800
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Micrognathia, Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:311895
17Q21.31 Microduplication Syndrome
Abnormality of the dentition, Anteverted nares, Micrognathia, Malar flattening, High palate, Shor... ORPHA:217340
Tonne-Kalscheuer Syndrome
Wide nasal bridge, Downturned corners of mouth, Velopharyngeal insufficiency, Widely spaced teeth... OMIM:300978
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Mesomelia, Retrognathia, Abnormal lung lobation, Camptodactyly of finger, Thin vermilion border, ... ORPHA:2631
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Ankle flexion contracture, Dental crowding, Retrognathia, Arthrogryposis multiplex congenita, Elb... OMIM:617468
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Anteverted nares, Micrognathia, Thin upper lip vermilion, Short nose, Cleft palate ORPHA:2015
Peroxisome Biogenesis Disorder 10A (Zellweger)
Prominent nose, Micrognathia, Epiphyseal stippling, Death in infancy, High palate, Feeding diffic... OMIM:614882
Catel-Manzke Syndrome
Ventriculomegaly, Oral synechia, Camptodactyly of finger, Joint stiffness, Micrognathia, Malar fl... ORPHA:1388
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Optic atrophy, Ventriculomegaly, Recurrent pneumonia, Gastroesophageal reflux, Camptodactyly of f... ORPHA:1495
Achondrogenesis Type 1A
Abnormal enchondral ossification, Long philtrum, Micromelia, Anteverted nares, Micrognathia, Apla... ORPHA:93299
Marshall-Smith Syndrome
Choanal atresia, Ventriculomegaly, Optic atrophy, Retrognathia, Anteverted nares, Gingival overgr... ORPHA:561
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Retrognathia, Hypertrophic cardiomyopathy, Anteverted nares, Protruding tongue, Cryp... OMIM:612938
Atelosteogenesis, Type Ii
Depressed nasal bridge, Micromelia, Respiratory insufficiency, Micrognathia, Malar flattening, De... OMIM:256050
Agnathia-Otocephaly Complex
Microglossia, Secundum atrial septal defect, Tracheomalacia, Respiratory distress, Aglossia, Micr... OMIM:202650
Congenital Disorder Of Glycosylation, Type Iu
Optic atrophy, Neonatal respiratory distress, Congenital contracture, Respiratory distress, Feedi... OMIM:615042
Auriculocondylar Syndrome 2A
Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Respiratory distr... OMIM:614669
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Raine Syndrome
Natal tooth, Arthrogryposis multiplex congenita, Micrognathia, Narrow mouth, Protruding tongue, N... OMIM:259775
Congenital Velopharyngeal Incompetence
Velopharyngeal insufficiency, Abnormal palate morphology ORPHA:2291
Maxillonasal Dysplasia
Depressed nasal ridge, Hypoplasia of the maxilla, Mandibular prognathia, Depressed nasal bridge, ... ORPHA:1248
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wide nasal bridge, Osteopenia, Ventriculomegaly, Fractured radius, Short femur, Unilateral cleft ... OMIM:616897
14Q11.2 Microdeletion Syndrome
Depressed nasal bridge, Long philtrum, Micrognathia, Narrow mouth, Exaggerated cupid's bow, Ventr... ORPHA:261120
Poirier-Bienvenu Neurodevelopmental Syndrome
Smooth philtrum, Protruding tongue, Open mouth, Downturned corners of mouth OMIM:618732
Teebi Hypertelorism Syndrome 1
Wide nasal bridge, Depressed nasal bridge, Coronal craniosynostosis, Small hand, Dental crowding,... OMIM:145420
Pierre Robin Syndrome And Oligodactyly
Cleft palate, Pierre-Robin sequence OMIM:172880
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Depressed nasal bridge, Contractures of the large joints, Bulbous nose, Pr... ORPHA:324410
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Long philtrum, Mitral valve prolapse, Joint hypermobility, Abnormal vi... ORPHA:90653
Developmental And Epileptic Encephalopathy 80
Wide nasal bridge, Short distal phalanx of finger, Ventriculomegaly, Long philtrum, Micrognathia,... OMIM:618580
Perching Syndrome
Depressed nasal bridge, Respiratory distress, Joint contracture, Rod-cone dystrophy, Camptodactyl... OMIM:617055
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Depressed nasal bridge, Mesomelia, Rhizomelia, Natal tooth, Aplastic clavic... ORPHA:50945
Periodontal Ehlers-Danlos Syndrome
Periodontitis, Atrophy of alveolar ridges, Agenesis of permanent teeth, Gingival overgrowth, Prem... ORPHA:75392
Congenital Arthrogryposis With Anterior Horn Cell Disease
Retrognathia, Micrognathia, Cryptorchidism, Neonatal death, Respiratory insufficiency due to musc... OMIM:611890
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Kleefstra Syndrome 1
Gastroesophageal reflux, Natal tooth, Persistence of primary teeth, Anteverted nares, Conotruncal... OMIM:610253
Diaphanospondylodysostosis
Depressed nasal ridge, Depressed nasal bridge, Tracheomalacia, Respiratory insufficiency, Respira... OMIM:608022
Lethal Congenital Contracture Syndrome 11
Microretrognathia, Retrognathia, Elbow flexion contracture, Distal arthrogryposis, Flexion contra... OMIM:617194
Microcephaly 26, Primary, Autosomal Dominant
Wide nasal bridge, Recurrent pneumonia, Ventriculomegaly, Long philtrum, Feeding difficulties, Gi... OMIM:619179
Non-Distal Duplication 10Q
Depressed nasal bridge, Micrognathia, Cryptorchidism, Joint hypermobility, Everted lower lip verm... ORPHA:1695
Auriculocondylar Syndrome 4
Micrognathia, Apnea, Narrow mouth, Glossoptosis, Cleft palate OMIM:620457
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Neonatal respiratory distress, Secundum atrial septal defec... ORPHA:2257
Peho-Like Syndrome
Optic atrophy, Ventriculomegaly, Retrognathia, Feeding difficulties, Open mouth, Short nose OMIM:617507
Congenital Disorder Of Glycosylation, Type Iie
Neonatal asphyxia, Gastroesophageal reflux, Secundum atrial septal defect, Retrognathia, Decrease... OMIM:608779
Achondrogenesis, Type Ia
Depressed nasal bridge, Hypoplastic nasal bridge, Unossified vertebral bodies, Hypoplastic scapul... OMIM:200600
Icf Syndrome
Depressed nasal bridge, Micrognathia, Communicating hydrocephalus, Protruding tongue, Malabsorpti... ORPHA:2268
20P12.3 Microdeletion Syndrome
Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Hypoplasia of the maxilla, Long phil... ORPHA:261295
Multiple Pterygium Syndrome, X-Linked
Depressed nasal ridge, Cleft upper lip, Short finger, Hypoplastic heart, Micrognathia, Increased ... OMIM:312150
Dyssegmental Dysplasia, Silverman-Handmaker Type
Wide nasal bridge, Limitation of joint mobility, Micromelia, Respiratory insufficiency, Abnormal ... ORPHA:1865
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Death in infancy, Ventricular septal defect OMIM:614876
Autosomal Recessive Distal Osteolysis Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Broad nasal tip, Short distal phalanx of... ORPHA:2776
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Wide nasal bridge, Neonatal respiratory distress, Respiratory insufficiency, 11 pairs of ribs, Mi... OMIM:618356
Spinal Muscular Atrophy, Type I
Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:253300
Nemaline Myopathy 9
Respiratory insufficiency, Micrognathia, Ventricular septal defect, High palate, Arthrogryposis m... OMIM:615731
Achondrogenesis Type 2
Pulmonary hypoplasia, Cardiorespiratory arrest, Micromelia, Absent vertebral body mineralization,... ORPHA:93296
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Death in adolescence, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:300717
Acrocallosal Syndrome
Everted upper lip vermilion, Open mouth, Narrow mouth, Protruding tongue, Cryptorchidism, Alveola... OMIM:200990
Gillessen-Kaesbach-Nishimura Syndrome
Retrognathia, Underdeveloped nasal alae, Abnormal lung lobation, Abnormal heart morphology, Micro... OMIM:263210
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Retrognathia, Open mouth, Malar flattening, Feeding difficulties in infancy, Sho... OMIM:613670
Mulibrey Nanism
Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Microglossia, Dental malocclusion, D... OMIM:253250
Cleft Velum
Hypoplasia of the maxilla, Nasal regurgitation, Velopharyngeal insufficiency, Oral-pharyngeal dys... ORPHA:99772
Fetal Akinesia Deformation Sequence
Depressed nasal bridge, Arthrogryposis multiplex congenita, Camptodactyly of finger, Respiratory ... ORPHA:994
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Short 5th metacarpal, Short middle phalanx of the 2nd finger, Convex n... OMIM:156510
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Delayed eruption of permanent teeth, Anteverted nares, Feeding difficulties, Exaggerated cupid's ... OMIM:618506
Weiss-Kruszka Syndrome
Abnormal heart morphology, Decreased response to growth hormone stimulation test, Feeding difficu... ORPHA:502430
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:613869
Robin Sequence-Oligodactyly Syndrome
Finger aplasia, Abnormality of the dentition, Micrognathia, Glossoptosis, Cleft palate ORPHA:3104
Peroxisome Biogenesis Disorder 1A (Zellweger)
High, narrow palate, Pigmentary retinopathy, Neonatal respiratory distress, Anteverted nares, Mic... OMIM:214100
Gaucher Disease, Perinatal Lethal
Depressed nasal bridge, Ventriculomegaly, Hepatic failure, Everted upper lip vermilion, Retrognat... OMIM:608013
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Frontonasal Dysplasia 1
Wide nasal bridge, Bifid nasal tip, Hypoplasia of the maxilla, Broad nasal tip, Joint contracture... OMIM:136760
Qazi-Markouizos Syndrome
High, narrow palate, Prominent nasal bridge, Open mouth, Cryptorchidism, Chronic constipation, Br... ORPHA:3010
Sandestig-Stefanova Syndrome
Wide nasal bridge, Ventriculomegaly, Retrognathia, Muscular ventricular septal defect, Orofacial ... OMIM:618804
Congenital Disorder Of Glycosylation, Type Iia
Osteopenia, Mandibular prognathia, Retrognathia, Long philtrum, Diastema, Macrodontia, Gingival o... OMIM:212066
Autosomal Recessive Amelia
Micrognathia, Amelia, Cryptorchidism, Acromelia of the lower limbs, Orofacial cleft, Aplasia/Hypo... ORPHA:1027
Multiple Pterygium Syndrome, Lethal Type
Depressed nasal ridge, Short finger, Hypoplastic heart, Micrognathia, Increased susceptibility to... OMIM:253290
Intellectual Developmental Disorder, X-Linked 91
Short 5th finger, Small hand, Macrodontia, High palate, Short foot, Short nose OMIM:300577
Intellectual Developmental Disorder, Autosomal Dominant 58
Wide nasal bridge, Broad nasal tip, Dental crowding, Protruding tongue, Submucous cleft hard pala... OMIM:618106
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Aplasia/Hypoplasia invo... ORPHA:1529
Hypomandibular Faciocranial Dysostosis
Coronal craniosynostosis, Hypoplasia of the maxilla, Pursed lips, Optic disc coloboma, Aglossia, ... OMIM:241310
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Cryptorchidism, Ventricular septal defect, Atrial septal defect, Short nose, Gastroesophageal ref... OMIM:618316
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Orofacial Cleft 13
Cleft soft palate, Oligodontia OMIM:613857
Genitopatellar Syndrome
Feeding difficulties, Gastroesophageal reflux, Delayed eruption of teeth, Long philtrum, Prominen... ORPHA:85201
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Cleft palate, Submucous cleft hard palate ORPHA:2521
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Neonatal respiratory distress, Microretrognathia, Secundum atrial septal defect, Arthrogryposis m... OMIM:616866
Hypoglossia With Situs Inversus
Microglossia, Malnutrition, Respiratory distress, Micrognathia, Narrow mouth, Situs inversus tota... OMIM:612776
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Tooth agenesis, Micrognathia, Abnormal mitral valve morphology, Abnormal palate morphology, Conve... ORPHA:1277
Cleft Palate, Deafness, And Oligodontia
Agenesis of permanent teeth, Cleft soft palate, Oligodontia of primary teeth OMIM:216300
Mandibulofacial Dysostosis With Alopecia
Wide nasal bridge, Hypoplasia of the maxilla, Dental crowding, Micrognathia, Delayed eruption of ... OMIM:616367
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Depressed nasal bridge, Ventriculomegaly, Prominent crus of helix, Open mouth, Protruding tongue,... OMIM:617804
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Ora... ORPHA:199306
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Depressed nasal bridge, Recurrent pneumonia, Aspiration pneumonia, Respiratory distress, Abnormal... ORPHA:314655
Congenital Myopathy 14
Nasogastric tube feeding, Elbow flexion contracture, Apnea, Knee flexion contracture, Hip contrac... OMIM:618414
Dyssegmental Dysplasia, Silverman-Handmaker Type
Wide nasal bridge, Micromelia, Respiratory insufficiency, Micrognathia, Narrow mouth, Malar flatt... OMIM:224410
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Carpal synostosis, Fibular aplasia, Micrognathia, Narrow mouth, Anodo... ORPHA:90652
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Depressed nasal bridge, Mandibular prognathia, Gastroesophageal reflux, Diastema, Thick lower lip... OMIM:301040
Odontochondrodysplasia 1
Mesomelia, Dentinogenesis imperfecta, Delayed eruption of teeth, Long philtrum, Micromelia, Respi... OMIM:184260
Achondrogenesis
Abnormal enchondral ossification, Long philtrum, Micromelia, Anteverted nares, Micrognathia, Apla... ORPHA:932
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Wide nasal bridge, Protein-losing enteropathy, Ventriculomegaly, Hepatic failure, Abdominal diste... OMIM:235255
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Wide nasal bridge, Ventriculomegaly, Long philtrum, Anteverted nares, Micrognathia, Feeding diffi... OMIM:618577
Multiple Mitochondrial Dysfunctions Syndrome 3
Optic atrophy, Ventriculomegaly, Retrognathia, Respiratory insufficiency, High palate, Arthrogryp... OMIM:615330
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Mandibular prognathia, Widely spaced teeth, Wide mouth, Protruding tongue, Dysphagia, Feeding dif... ORPHA:98795
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Meckel diverticulum, Retrognathia, Chorioretinal coloboma, Nasogastric tube fee... ORPHA:163961
Cleft Palate-Lateral Synechia Syndrome
Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia ORPHA:2016
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Wide nasal bridge, Choanal atresia, Abnormal lip morphology, Aplasia/Hypoplasia of the tongue, Re... ORPHA:2759
Alg3-Cdg
Osteopenia, Abnormality of the nose, Cardiomyopathy, Decreased liver function, Feeding difficulti... ORPHA:79321
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:611722
Whistling Face Syndrome, Recessive Form
Whistling appearance, Microglossia, Shoulder flexion contracture, Long philtrum, Underdeveloped n... OMIM:277720
Dislocation Of The Hip-Dysmorphism Syndrome
Wide nasal bridge, Depressed nasal ridge, Anteverted nares, Narrow mouth, Abnormal tricuspid valv... ORPHA:2412
Oculocerebrofacial Syndrome, Kaufman Type
High, narrow palate, Optic atrophy, Retrognathia, Abnormal lip morphology, Abnormal optic nerve m... ORPHA:2707
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Gastroesophageal reflux, Atelectasis, Cardiomyopathy, Abnormality of the temporoman... ORPHA:258
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Micrognathia, Narrow mouth, Wide nose, Humeroradial synost... OMIM:251230
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Stomach cancer, Cleft palate, Cleft upper lip OMIM:137215
Kagami-Ogata Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Retrognathia, Long philtrum, Anteverted nares,... OMIM:608149
Congenital Disorder Of Glycosylation, Type Iy
Widely spaced teeth, Respiratory distress, Micrognathia, Wide mouth, Feeding difficulties OMIM:300934
Chromosome 6Q11-Q14 Deletion Syndrome
Broad nasal tip, Long philtrum, Bilateral cryptorchidism, Feeding difficulties, Micrognathia, Pro... OMIM:613544
Lujan-Fryns Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Camptodactyly of finger... ORPHA:776
Odontochondrodysplasia
Dentinogenesis imperfecta, Depressed nasal bridge, Delayed eruption of teeth, Retrognathia, Micro... ORPHA:166272
Variant Abeta2M Amyloidosis
Multiple bony cystic lesions, Pathologic fracture, Gastrointestinal infarctions, Abnormality of t... ORPHA:314652
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic valve stenosis, Ventriculomegaly, Downturned corners of mouth, Tetralogy of Fallot, Anteve... ORPHA:96147
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Wide nasal bridge, Ventriculomegaly, Hypoplasia of the maxilla, Feeding difficulties, Respiratory... OMIM:218000
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence OMIM:192445
Fryns Syndrome
Micrognathia, Cryptorchidism, Anal atresia, High palate, Non-midline cleft of the upper lip, Duod... ORPHA:2059
Ritscher-Schinzel Syndrome 2
Short distal phalanx of finger, Pulmonary artery hypoplasia, Camptodactyly of finger, Intestinal ... OMIM:300963
Lowry-Maclean Syndrome
High, narrow palate, Talon cusp, Hypoplasia of the maxilla, Choanal atresia, Osteopenia, Downturn... ORPHA:2409
Periventricular Nodular Heterotopia 7
Microretrognathia, Dental crowding, Contracture of the proximal interphalangeal joint of the 2nd ... OMIM:617201
Congenital Myopathy 10A, Severe Variant
Tongue fasciculations, Gastroesophageal reflux, Camptodactyly of finger, Respiratory distress, Re... OMIM:614399
Marden-Walker Syndrome
High, narrow palate, Pyloric stenosis, Joint contracture of the hand, Congenital contracture, Lon... OMIM:248700
Platyspondylic Dysplasia, Torrance Type
Depressed nasal bridge, Hypoplastic scapulae, Short distal phalanx of finger, Micromelia, Malar f... ORPHA:85166
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Optic atrophy, Gastroesophageal reflux, Feeding difficulties, Micrognathia, Cryptorchidism, Thin ... OMIM:615419
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Depressed nasal bridge, Recurrent upper respiratory tract infections, Diarrhea, Retrog... OMIM:614069
Tetrasomy 5P
Wide nasal bridge, Long philtrum, Respiratory distress, Anteverted nares, Micrognathia, Short hal... ORPHA:3309
Angelman Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Widely spaced teeth, Protruding tongue, Feeding... OMIM:105830
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Fontaine Progeroid Syndrome
Micrognathia, Narrow mouth, Protruding tongue, Cryptorchidism, Neonatal death, Bicuspid aortic va... OMIM:612289
Intestinal Dysmotility Syndrome
Decreased intestinal transit time, Diarrhea, Abdominal distention, Projectile vomiting, High pala... OMIM:620045
Angelman Syndrome Due To A Point Mutation
Mandibular prognathia, Widely spaced teeth, Wide mouth, Protruding tongue, Dysphagia, Feeding dif... ORPHA:411511
Fetal Akinesia Deformation Sequence 4
Wide nasal bridge, Retrognathia, 11 pairs of ribs, Micrognathia, Cryptorchidism, Prenatal death, ... OMIM:618393
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Wide nasal bridge, Gastroesophageal reflux, Bulbous nose, Anteverted nares, Micrognathia, Open mo... OMIM:613604
Foxp1 Syndrome
Recurrent upper respiratory tract infections, Broad nasal tip, Downturned corners of mouth, Retro... ORPHA:391372
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:616081
Verheij Syndrome
Wide nasal bridge, Short 5th finger, Broad nasal tip, Retrognathia, Long philtrum, Branchial cyst... OMIM:615583
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Thin upper lip vermilion, Everted lower lip vermilion, Short philtrum, Wid... ORPHA:2429
Melanocytic Nevus Syndrome, Congenital
Broad nasal tip, Long philtrum, Anteverted nares, Open mouth, Prominence of the premaxilla, Narro... OMIM:137550
Fetal Akinesia Deformation Sequence 2
Wide nasal bridge, Respiratory insufficiency, Micrognathia, Tented upper lip vermilion, Cryptorch... OMIM:618388
Chung-Jansen Syndrome
Long philtrum, Anteverted nares, Micrognathia, Feeding difficulties, Cryptorchidism, Joint hyperm... OMIM:617991
Robinow Syndrome, Autosomal Recessive 2
Wide nasal bridge, Abnormality of the dentition, Mesomelia, Broad nasal tip, Long philtrum, Antev... OMIM:618529
3C Syndrome
Aortic valve stenosis, Chorioretinal coloboma, Micrognathia, Abnormal mitral valve morphology, Ve... ORPHA:7
Orofaciodigital Syndrome Xix
Wide nasal bridge, Narrow palate, Bifid nasal tip, Carious teeth, Downturned corners of mouth, Lo... OMIM:620107
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Wide nasal bridge, Depressed nasal bridge, Short distal phalanx of finger, Carious teeth, Retinal... OMIM:617102
Hypomandibular Faciocranial Dysostosis
Bifid uvula, Aplasia/Hypoplasia of the tongue, Optic disc coloboma, Anteverted nares, Narrow mout... ORPHA:1790
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Osteopenia, Optic atrophy, Dental malocclusion, Contractures of the large joints, Nasogastric tub... ORPHA:329178
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Optic atrophy, Hypoplasia of the maxilla, Bulbous nose, Thin upper lip vermilion, Smooth philtrum... OMIM:618737
Craniosynostosis, Herrmann-Opitz Type
Micromelia, Micrognathia, Malar flattening, Aplasia/Hypoplasia of the lungs, Convex nasal ridge, ... ORPHA:2145
Chromosome 13Q33-Q34 Deletion Syndrome
Micrognathia, Open mouth, Irregular dentition, Cryptorchidism, Dandy-Walker malformation, Anal at... OMIM:619148
Mitochondrial Myopathy And Sideroblastic Anemia
High palate, Micrognathia, Long philtrum, Short nose ORPHA:2598
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Wide nasal bridge, Optic atrophy, Ventriculomegaly, Broad columella, Long philtrum, Respiratory d... OMIM:619383
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Downturned corners of mouth, Anteverted nares, Micrognathia, Open mouth, ... OMIM:614744
Lethal Recessive Chondrodysplasia
Micromelia, Respiratory distress, Micrognathia, Generalized osteosclerosis, Limb undergrowth, Mac... ORPHA:1423
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Depressed nasal bridge, Micromelia, Long philtrum, Respiratory distress, Ventricular septal defec... OMIM:617895
Split-Hand/Foot Malformation 3
Hypoplasia of the maxilla, Microretrognathia, Narrow mouth, Camptodactyly, High palate, Cleft palate OMIM:246560
Neuropathy, Congenital Hypomyelinating, 3
Gastroesophageal reflux, Arthrogryposis multiplex congenita, Retrognathia, Respiratory insufficie... OMIM:618186
Cohen Syndrome
High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill... OMIM:216550
Achondrogenesis Type 1B
Abnormal enchondral ossification, Long philtrum, Micromelia, Anteverted nares, Micrognathia, Apla... ORPHA:93298
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Long philtrum, Abnormal palate morphology, Recurrent respiratory infections, S... ORPHA:1389
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Short tibia, Cryptorchidism, Anal atresia, Cleft lip, Respiratory insufficiency, Ham... OMIM:616300
Burn-Mckeown Syndrome
Wide nasal bridge, Bilateral choanal atresia, Prominent nasal bridge, Abnormal palate morphology,... ORPHA:1200
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Pulmonary situs ambiguus, Rod-cone dystrophy, Abnormal heart morphology, ... ORPHA:244
Lethal Congenital Contracture Syndrome 10
Long philtrum, Stiff neck, Micrognathia, Ventricular septal defect, Cardiomegaly, Hypoplasia of t... OMIM:617022
Brachytelephalangic Chondrodysplasia Punctata
Hypoplastic cervical vertebrae, Ventricular septal defect, Stippling of the epiphyses of the dist... ORPHA:79345
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Anteverted nares, Narrow mouth, Abnormal oral cavity morphology, Short nose ORPHA:1355
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Mandibulofacial Dysostosis-Microcephaly Syndrome
Hypoplasia of the maxilla, Feeding difficulties, Micrognathia, Malar flattening, Atrial septal de... ORPHA:79113
Oculofaciocardiodental Syndrome
Tooth malposition, Mitral valve prolapse, Radioulnar synostosis, Feeding difficulties in infancy,... ORPHA:2712
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Death in infancy, Cleft palate OMIM:258320
14Q24.1Q24.3 Microdeletion Syndrome
Wide nasal bridge, Short thumb, Long philtrum, Intestinal malrotation, Abnormal heart morphology,... ORPHA:401935
Diabetes Insipidus, Neurohypophyseal
Osteopenia, Wide nose, Long philtrum, Short nose OMIM:125700
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Depressed nasal ridge, Respiratory insufficiency, Micrognathia, Narrow mouth, Aplasia/Hypoplasia ... ORPHA:1046
Aarskog-Scott Syndrome
Wide nasal bridge, Abnormality of the dentition, Hypoplasia of the maxilla, Small hand, Delayed e... ORPHA:915
Congenital Myopathy 22B, Severe Fetal
Wide nasal bridge, Dental crowding, Retrognathia, Shoulder flexion contracture, Respiratory distr... OMIM:620369
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Death in childhood, Death in infancy, Neonatal death, Cardiomegaly, ... OMIM:614096
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Depressed nasal bridge, Optic atrophy, Bulbous nose, Micrognathia, Narrow mouth, Cryptorchidism, ... OMIM:618766
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Choanal atresia, Hypoplasia of the maxilla, Optic atrophy, Respiratory insufficiency, Malar flatt... ORPHA:93262
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Wide nasal bridge, Respiratory distress, Bulbous nose, Micrognathia, Thin vermilion border, Short... ORPHA:261304
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short distal phalanx of finger, Anteverted nares, Micrognathia, Open mouth, Narrow mouth, Microdo... OMIM:619356
Edinburgh Malformation Syndrome
Choanal atresia, Downturned corners of mouth, Respiratory insufficiency, Anteverted nares, Microg... ORPHA:1895
Cardioacrofacial Dysplasia 1
Conical tooth, Hypoplasia of the maxilla, Diastema, Atrioventricular canal defect, Complete atrio... OMIM:619142
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short distal phalanx of finger, Dental malocclusion, Short columella, Sho... OMIM:155050
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Long philtrum, Micrognathia, Malar flattening, Osteoarthritis, Glossoptosis, Cleft palate ORPHA:166100
Pierpont Syndrome
Broad nasal tip, Short toe, Widely spaced teeth, Short finger, Feeding difficulties, Prominent me... OMIM:602342
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Widely spaced teeth, Wide mouth, Limitation of movement at ankles, Protruding tongue, Constipatio... ORPHA:98794
Ullrich Congenital Muscular Dystrophy
Elbow flexion contracture, Wrist hypermobility, Micrognathia, Increased laxity of fingers, Knee f... ORPHA:75840
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Hypoplasia of the maxilla, Prominent nasal bridge, Chronic constipation, High palate, Mandibular ... OMIM:300676
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Respiratory distress, Micrognathia, Respiratory insufficiency due to musc... OMIM:300580
Perlman Syndrome
High, narrow palate, Wide nasal bridge, Retrognathia, Abnormal pancreas morphology, Abnormal uppe... ORPHA:2849
Okur-Chung Neurodevelopmental Syndrome
Wide nasal bridge, Abnormal heart morphology, Anteverted nares, Micrognathia, Protruding tongue, ... OMIM:617062
Auriculocondylar Syndrome
Mandibular condyle aplasia, Bifid uvula, Difficulty in tongue movements, Microglossia, Dental mal... ORPHA:137888
Developmental And Epileptic Encephalopathy 100
Depressed nasal bridge, Ventriculomegaly, Broad nasal tip, Small hand, Gastroesophageal reflux, E... OMIM:619777
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Thick lower lip vermilion, Hypertrophic cardiomyopathy, Anteverted nares, Cryptorc... ORPHA:2701
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiplex congenita, Pulmonary hypoplasia OMIM:601809
Meckel Syndrome, Type 8
Depressed nasal ridge, Abdominal distention, Cleft upper lip, Short nose, Pericardial effusion, C... OMIM:613885
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Retrognathia, Camptodactyly of finger, Hypertrophic cardiomyopathy, Abnormal pulmonary valve morp... ORPHA:1194
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Joint contracture of the hand, Chylothorax, Nasogastric tube feeding, Respiratory distress, Death... OMIM:620278
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Micrognathia, Perineal fistula, Absent testis, Rectal atresia, A... ORPHA:2753
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Crouzon Syndrome
Choanal atresia, Hypoplasia of the maxilla, Optic atrophy, Multiple suture craniosynostosis, Resp... ORPHA:207
Glutamine Deficiency, Congenital
Wide nasal bridge, Depressed nasal bridge, Neonatal respiratory distress, Lateral ventricle dilat... OMIM:610015
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Congenital Muscular Dystrophy With Intellectual Disability
Abnormality of the tongue muscle, Ventriculomegaly, Pigmentary retinopathy, Respiratory insuffici... ORPHA:370968
Cofs Syndrome
Wide nasal bridge, Optic atrophy, Camptodactyly of finger, Joint stiffness, Micrognathia, Abnorma... ORPHA:1466
Microcephaly-Capillary Malformation Syndrome
Optic atrophy, Hypoplasia of the maxilla, Short distal phalanx of finger, Patent foramen ovale, V... OMIM:614261
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Respiratory distress, Abnormal heart morphology, Elbow flexion contrac... ORPHA:1143
Fetal Trimethadione Syndrome
Depressed nasal bridge, Tetralogy of Fallot, Micrognathia, Ventricular septal defect, Transpositi... ORPHA:1913
Chromosome 1Q41-Q42 Deletion Syndrome
Depressed nasal bridge, Ventriculomegaly, Broad nasal tip, Cleft upper lip, Widely spaced teeth, ... OMIM:612530
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Depressed nasal bridge, Neonatal respiratory distress, Tracheomalacia, Anteverted nares, Gingival... OMIM:618797
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hypoplasia of the maxilla, Dental crowding, Narrow nose, Narrow nasal bridge, Micrognathia, Open ... OMIM:309520
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue atrophy, Respiratory failure OMIM:613435
Auriculocondylar Syndrome 1
Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Apnea, Narrow mouth, Micrognath... OMIM:602483
Congenital Sialidosis Type 2
Optic atrophy, Cherry red spot of the macula, Abnormal heart morphology, Gingival overgrowth, Pro... ORPHA:93400
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Death in early adulthood, Open mouth, Abnormal mitral valve morphology... ORPHA:192
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Narrow mouth, Abnormal cardiac septum morphology, Thin vermilion border, Reduced bone mineral den... ORPHA:2370
Tetraamelia Syndrome 2
Microretrognathia, Absent nipple, Ankyloglossia, Bilateral lung agenesis, Micrognathia, Amelia, V... OMIM:618021
Lowry-Maclean Syndrome
Delayed eruption of teeth, Abnormal heart morphology, Convex nasal ridge, Craniosynostosis, Cleft... OMIM:600252
Dental Anomalies And Short Stature
Hypoplasia of the maxilla, Widely spaced teeth, Mitral valve prolapse, Oligodontia, Microdontia, ... OMIM:601216
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, Camptodactyly of finger, Decreased testicular size, Prominent nasal br... ORPHA:85279
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Mesomelic Limb Shortening And Bowing
Retrognathia, Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Mesomelic arm shor... OMIM:249710
Amish Lethal Microcephaly
Optic atrophy, Ventriculomegaly, Limitation of joint mobility, Micrognathia, Cleft soft palate, D... ORPHA:99742
Adenylosuccinate Lyase Deficiency
Long philtrum, Anteverted nares, Thin upper lip vermilion, Smooth philtrum, Short nose ORPHA:46
Cataract-Intellectual Disability-Hypogonadism Syndrome
Tooth malposition, Depressed nasal bridge, Furrowed tongue, Micrognathia, Malar flattening, Crypt... ORPHA:1387
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Natal tooth, Ventricular septal defect, Neonatal death, Short foot, Short t... OMIM:269860
Rhiny
Thin vermilion border, Anteverted nares, Short nose OMIM:180360
Marshall Syndrome
Wide nasal bridge, Abnormality of the dentition, Hypoplasia of the maxilla, Depressed nasal bridg... ORPHA:560
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Pfeiffer Syndrome
Choanal atresia, Hypoplasia of the maxilla, Depressed nasal bridge, Dental crowding, Coronal cran... OMIM:101600
Distal Triplication 15Q
Retrognathia, Abnormal heart morphology, Micrognathia, Atrial septal defect, Hydrocephalus, Campt... ORPHA:314588
8Q22.1 Microdeletion Syndrome
Wide nasal bridge, Abnormality of the dentition, Hypoplasia of the maxilla, Depressed nasal ridge... ORPHA:178303
Leukocyte Adhesion Deficiency Type Ii
Wide nasal bridge, Depressed nasal ridge, Recurrent pneumonia, Depressed nasal bridge, Gingival o... ORPHA:99843
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Teebi Hypertelorism Syndrome 2
Depressed nasal bridge, Broad nasal tip, Delayed eruption of teeth, Microdontia, Thin upper lip v... OMIM:619736
Tarp Syndrome
Wide nasal bridge, Optic atrophy, Pulmonary hypoplasia, Hypoplasia of proximal radius, Tetralogy ... ORPHA:2886
Chondrodysplasia With Joint Dislocations, Gpapp Type
Wide nasal bridge, Coronal craniosynostosis, Capitate-hamate fusion, Short toe, Micrognathia, Nar... OMIM:614078
Congenital Disorder Of Glycosylation, Type Ie
High, narrow palate, Depressed nasal bridge, Ankle flexion contracture, Optic atrophy, Small hand... OMIM:608799
Mandibulofacial Dysostosis, Guion-Almeida Type
Choanal atresia, Respiratory distress, Anteverted nares, Micrognathia, Malar flattening, Ventricu... OMIM:610536
Nager Syndrome
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Hypoplasia of the zygomatic bone, Re... ORPHA:245
Temtamy Preaxial Brachydactyly Syndrome
Tooth malposition, Micrognathia, Narrow mouth, Abnormal optic disc morphology, Short hallux, Tars... ORPHA:363417
Stuve-Wiedemann Syndrome 1
Wide nasal base, Carious teeth, Short tibia, Pursed lips, Micrognathia, Dysphagia, Short nose, Re... OMIM:601559
Mosaic Trisomy 1
Wide nasal bridge, Depressed nasal bridge, Microretrognathia, Lateral ventricle dilatation, Thick... ORPHA:1692
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Ventriculomegaly, Downturned corners of mouth, Lateral ventricle dilatati... OMIM:613443
Robinow Syndrome, Autosomal Dominant 2
Mesomelia, Abnormality of the dentition, Depressed nasal bridge, Short distal phalanx of finger, ... OMIM:616331
Atelosteogenesis Type I
Rhizomelia, Short femur, Abnormal pancreatic duct morphology, Absent or minimally ossified verteb... ORPHA:1190
Axenfeld-Rieger Syndrome, Type 2
Wide nasal bridge, Anal stenosis, Hypoplasia of the maxilla, Abnormal heart morphology, Cryptorch... OMIM:601499
Myotubular Myopathy With Abnormal Genital Development
Retrognathia, Atelectasis, Bilateral cryptorchidism, Respiratory distress, Death in infancy, Join... OMIM:300219
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Depressed nasal bridge, Anal stenosis, Short distal phalanx of finger, Gastroesophageal reflux, L... OMIM:614080
Cutis Laxa, Autosomal Recessive, Type Ic
Micrognathia, Death in childhood, Rectal prolapse, Osteopenia, Gastroesophageal reflux, Tracheoma... OMIM:613177
Skraban-Deardorff Syndrome
Depressed nasal bridge, Ventriculomegaly, Hyperplasia of the maxilla, Widely spaced teeth, Thick ... OMIM:617616
Intellectual Developmental Disorder, Autosomal Dominant 70
Wide nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Retrognathia, Feeding difficulties... OMIM:620157
Down Syndrome
Narrow mouth, Protruding tongue, Open mouth, Ventricular septal defect, Chronic constipation, Cel... ORPHA:870
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Microretrognathia, Bulbous nose, Anteverted nares, Neonatal death, Narrow nasal ridge, Choanal st... OMIM:236500
Ring Chromosome 22 Syndrome
Wide nasal base, Bulbous nose, Pleural effusion, Protruding tongue, Thick vermilion border ORPHA:1446
Neu-Laxova Syndrome
Bifid uvula, Ventriculomegaly, Depressed nasal ridge, Osteopenia, Retrognathia, Rickets, Osteomal... ORPHA:2671
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Hypoplastic cervical vertebrae, Retrognathia, Feeding difficulties, Joint hypermobility, Advanced... OMIM:620269
Diarrhea 12, With Microvillus Atrophy
Dependency on parenteral nutrition, Osteopenia, Vomiting, Secretory diarrhea, Villous atrophy, Re... OMIM:619445
Radio-Renal Syndrome
High, narrow palate, Depressed nasal bridge, Chylothorax, Downturned corners of mouth, Retrognath... ORPHA:3015
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Carious teeth, Micrognathia, Mitral valve prolapse, Radioulnar synostosis, High palate, Short nos... ORPHA:536467
Ring Chromosome 8 Syndrome
Anteverted nares, Abnormal palate morphology, Short nose ORPHA:1450
Arthrogryposis, Distal, Type 2E
Joint contracture of the hand, Foot joint contracture, Micrognathia, Narrow mouth, Distal arthrog... OMIM:121070
Immunodeficiency 95
Recurrent viral pneumonia, Respiratory distress, Recurrent viral upper respiratory tract infectio... OMIM:619773
Angelman Syndrome
Optic atrophy, Gastroesophageal reflux, Vomiting, Widely spaced teeth, Nasogastric tube feeding, ... ORPHA:72
Short Stature-Wormian Bones-Dextrocardia Syndrome
Wide nasal bridge, Delayed eruption of teeth, Tooth agenesis, Camptodactyly of finger, Anterior h... ORPHA:2863
Spondylometaphyseal Dysplasia, X-Linked
Wide nasal bridge, Depressed nasal bridge, Short finger, Respiratory insufficiency, Anteverted na... OMIM:313420
Al Amyloidosis
Macroglossia, Abnormal cardiac ventricle morphology, Gastrointestinal hemorrhage, Xerostomia, Abn... ORPHA:85443
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Depressed nasal bridge, Hemiatrophy of upper limb, Downturned corners of mouth, Long philtrum, Hy... ORPHA:163649
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip OMIM:179400
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Depressed nasal bridge, Long philtrum, Anteverted nares, Micrognathia, Short columella, Malar fla... ORPHA:171839
Multiple Epiphyseal Dysplasia, Lowry Type
Delayed epiphyseal ossification, Rhizomelia, Broad nasal tip, Micrognathia, Knee flexion contract... ORPHA:166016
Ohdo Syndrome
Wide nasal bridge, Depressed nasal bridge, Long philtrum, Widely spaced teeth, Anteverted nares, ... OMIM:249620
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Dilated third ventricle, Lateral ventricle dilatation, Cryptorchidism, Retinal detachment, Everte... OMIM:620371
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Long philtrum, Thin upper lip vermilion, Smooth philtrum, Short nose, Dan... ORPHA:438178
Intellectual Developmental Disorder, X-Linked 21
Dental crowding, Tented upper lip vermilion, Open mouth, Joint hypermobility, Macroorchidism, Man... OMIM:300143
Pyruvate Dehydrogenase E1-Alpha Deficiency
Wide nasal bridge, Flared nostrils, Ventriculomegaly, Long philtrum, Anteverted nares, Apneic epi... OMIM:312170
Hamel Cerebro-Palato-Cardiac Syndrome
Wide nasal bridge, Bulbous nose, Micrognathia, Narrow mouth, Malar flattening, Death in infancy, ... ORPHA:93946
Congenital Myopathy 1B, Autosomal Recessive
Respiratory insufficiency, Joint hypermobility, Feeding difficulties in infancy, High palate, Rec... OMIM:255320
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Tetralogy of Fallot, Absent cupid's bow, Cleft soft palate, Med... ORPHA:2919
Chromosome 22Q11.2 Duplication Syndrome
Depressed nasal ridge, High palate, Micrognathia, Velopharyngeal insufficiency OMIM:608363
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Vomiting, Intestinal pseudo-obstruction, Intestinal malrota... OMIM:300048
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Short nose, Broad nasal tip, Downturned corners of mouth, Short toe, Abnormal heart morphology, T... OMIM:239300
Treacher Collins Syndrome 4
Micrognathia, Malar flattening, Feeding difficulties in infancy, Choanal stenosis, Cleft palate, ... OMIM:618939
Acro-Renal-Mandibular Syndrome
Hypoplastic scapulae, Hypoplasia of the zygomatic bone, Aplasia/Hypoplasia of the tongue, Abnorma... ORPHA:958
Adducted Thumbs Syndrome
High, narrow palate, Velopharyngeal insufficiency, Respiratory insufficiency, High palate, Cleft ... OMIM:201550
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Tetrasomy 12P
Downturned corners of mouth, Delayed eruption of teeth, Long philtrum, Thick upper lip vermilion,... ORPHA:884
Baraitser-Winter Syndrome 1
Wide nasal bridge, Aortic valve stenosis, Ventriculomegaly, Retrognathia, Long philtrum, Cleft up... OMIM:243310
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Atelosteogenesis Type Ii
Wide nasal base, Hypoplastic cervical vertebrae, Micrognathia, Bilateral cleft palate, Short meta... ORPHA:56304
Microphthalmia, Syndromic 9
Wide nasal bridge, Hypoplastic left atrium, Agenesis of pulmonary vessels, Respiratory insufficie... OMIM:601186
X-Linked Intellectual Disability, Porteous Type
Hypoplasia of the maxilla, Bulbous nose, Short philtrum, Mandibular prognathia ORPHA:93945
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tooth agenesis, Tetralogy of Fallot, Respiratory insufficiency, Joint stiffness, Micrognathia, Ab... ORPHA:1166
Tetraploidy
Radial club hand, Micrognathia, Aplasia/Hypoplasia of the lungs, Convex nasal ridge, Short philtr... ORPHA:3305
Keipert Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Short distal phalanx of finger, Prominent nasa... ORPHA:2662
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Patent foramen ovale, Dysphagia, Multiple prenatal fractures, Flex... OMIM:616867
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Wide nasal bridge, Depressed nasal bridge, Mandibular prognathia, Arthrogryposis-like hand anomal... ORPHA:369891
Lissencephaly Syndrome, Norman-Roberts Type
Wide nasal bridge, Microretrognathia, Respiratory distress, Patent foramen ovale, Atrial septal d... ORPHA:89844
Encephalopathy Due To Sulfite Oxidase Deficiency
Long philtrum, Abnormal pattern of respiration, Nausea and vomiting, Feeding difficulties in infa... ORPHA:833
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Delayed epiphyseal ossification, Depressed nasal bridge, Goiter, Respiratory distress, Feeding di... ORPHA:226313
Pitt-Hopkins-Like Syndrome 2
Gastroesophageal reflux, Feeding difficulties, Protruding tongue, Constipation, Hyperventilation,... OMIM:614325
Congenital Myopathy 17
Dental malocclusion, Long philtrum, Respiratory insufficiency, Tented upper lip vermilion, Respir... OMIM:618975
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Dental crowding, Short toe, Long philtrum, Short 5th metacarpal, Anteverted nares, 11... OMIM:617877
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Cleft soft palate, Unilateral cleft lip, Cleft palate ORPHA:2736
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Depressed nasal bridge, Neonatal respiratory distress, Downturned corners of mouth, Anteriorly pl... OMIM:217980
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Ventriculomegaly, Broad nasal tip, Abdominal distention, Hepatic fail... ORPHA:1655
Martsolf Syndrome 1
Tooth malposition, Enlarged sylvian cistern, Ventriculomegaly, Hypoplasia of the maxilla, Broad n... OMIM:212720
Rhizomelic Chondrodysplasia Punctata, Type 2
Wide nasal bridge, Depressed nasal bridge, Osteopenia, Rhizomelia, Tetralogy of Fallot, Anteverte... OMIM:222765
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Wide nasal bridge, Underdeveloped nasal alae, Micrognathia, Joint contracture of the 5th finger, ... OMIM:248910
Czeizel-Losonci Syndrome
Micrognathia, Hypoplastic nipples, Tracheoesophageal fistula, Hydrocephalus, Dextrocardia, High p... ORPHA:2437
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Short distal phalanx of finger, Underdeveloped nasal alae, Abnormal lung lob... ORPHA:2516
Hemifacial Atrophy, Progressive
Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Distal Duplication 18Q
Choanal atresia, Carious teeth, Camptodactyly of finger, Abnormal dental morphology, Anteverted n... ORPHA:1716
Cardiocranial Syndrome, Pfeiffer Type
High, narrow palate, Bifid uvula, Wide nasal bridge, Contracture of the proximal interphalangeal ... ORPHA:2872
Metatropic Dysplasia
Depressed nasal bridge, Coarse metaphyseal trabecularization, Abnormal enchondral ossification, H... ORPHA:2635
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Apnea, Pulmonary hypoplasia OMIM:615228
Alg9-Cdg
Diarrhea, Micrognathia, Ventricular septal defect, Atrial septal defect, Abnormal bone ossificati... ORPHA:79328
Hyperekplexia 4
High palate, Respiratory failure OMIM:618011
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Short distal phalanx of finger, Short toe, Abnormal mandible morphology, Cam... ORPHA:3201
Thanatophoric Dysplasia
Depressed nasal bridge, Ventriculomegaly, Micromelia, Respiratory insufficiency, Joint stiffness,... ORPHA:2655
Developmental And Epileptic Encephalopathy 31B
Optic atrophy, Ventriculomegaly, Gingival overgrowth, Protruding tongue, Colpocephaly, Constipati... OMIM:620352
Peho Syndrome
Optic atrophy, Ventriculomegaly, Limitation of joint mobility, Arthrogryposis multiplex congenita... ORPHA:2836
16P12.1P12.3 Triplication Syndrome
High, narrow palate, Short 5th finger, Retrognathia, Long philtrum, Bilateral cryptorchidism, Abn... ORPHA:485405
Orofaciodigital Syndrome Ii
Bifid nasal tip, Hypoplasia of the maxilla, Broad nasal tip, Depressed nasal bridge, Micrognathia... OMIM:252100
Joubert Syndrome 1
Enlarged fossa interpeduncularis, Chorioretinal coloboma, Optic disc coloboma, Episodic tachypnea... OMIM:213300
Severe X-Linked Intellectual Disability, Gustavson Type
Optic atrophy, Recurrent upper respiratory tract infections, Lateral ventricle dilatation, Contra... ORPHA:3078
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Depressed nasal bridge, Cleft lip, Natal tooth, Short tibia, Hamartoma of tongue, Tetralogy of Fa... OMIM:617925
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Microglossia, Microretrognathia, Aplasia/Hypoplasia of the radius, Pro... ORPHA:1307
Ceroid Lipofuscinosis, Neuronal, 10
Wide nasal bridge, Respiratory insufficiency, Apnea, Neonatal death, Retinal atrophy, Rod-cone dy... OMIM:610127
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Dental crowding, Downturned corners of mouth, Intestinal malrotation, Narrow nose,... OMIM:617602
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventriculomegaly, Choanal atresia, Depressed nasal bridge, Chorioretinal... ORPHA:284169
17P13.3 Microduplication Syndrome
Ventriculomegaly, Narrow mouth, High palate, Short nose, Wide nose ORPHA:217385
Apert Syndrome
Bifid uvula, Ventriculomegaly, Hypoplasia of the maxilla, Choanal atresia, Delayed eruption of te... ORPHA:87
Gm1-Gangliosidosis, Type Ii
Optic atrophy, Ventriculomegaly, Joint stiffness, Gingival overgrowth, Narrow mouth, Protruding t... OMIM:230600
Crisponi Syndrome
Limitation of joint mobility, Long philtrum, Camptodactyly of finger, Respiratory insufficiency, ... ORPHA:1545
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intestinal malrotation, Micrognathia, Lower limb undergrowth, Aqueductal stenosis, Abnormally oss... ORPHA:3035
Mosaic Trisomy 14
Wide nasal bridge, Camptodactyly of finger, Anteverted nares, Micrognathia, Prominent nasal bridg... ORPHA:1703
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Wide nasal bridge, Depressed nasal bridge, Dental crowding, Retrognathia, Long philtrum, Bulbous ... OMIM:617061
Clark-Baraitser Syndrome
Depressed nasal bridge, Downturned corners of mouth, Long philtrum, Anteverted nares, Exaggerated... OMIM:617752
1Q41Q42 Microdeletion Syndrome
Depressed nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Cryptorchidism, Submucous cle... ORPHA:250999
Moebius Syndrome
Bifid uvula, Abnormality of the dentition, Depressed nasal bridge, Respiratory distress, Decrease... OMIM:157900
Fetal Alcohol Syndrome
Anteverted nares, Micrognathia, Joint stiffness, Microdontia, Thin upper lip vermilion, Smooth ph... ORPHA:1915
Intellectual Developmental Disorder, Autosomal Recessive 68
Wide nasal bridge, Hypoplasia of the maxilla, Hydrocephalus OMIM:618302
Baker-Gordon Syndrome
Gastroesophageal reflux, Feeding difficulties, Joint hypermobility, Thin upper lip vermilion, Smo... OMIM:618218
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Poor suck, Respiratory distress, Nasogastric tube feeding in infancy, Ventilator dependence with ... ORPHA:254864
Carey-Fineman-Ziter Syndrome 2
High, narrow palate, Dental crowding, Velopharyngeal insufficiency, Long philtrum, Downturned cor... OMIM:619941
Meckel Syndrome 14
Microretrognathia, Cardiorespiratory arrest, Retrognathia, Abdominal distention, Anteverted nares... OMIM:619879
Acromicric Dysplasia
Small hand, Long philtrum, Thick lower lip vermilion, Bulbous nose, Anteverted nares, Joint stiff... ORPHA:969
Fibrochondrogenesis 1
Depressed nasal bridge, Joint contracture of the hand, Hypoplastic scapulae, Small hand, Rhizomel... OMIM:228520
Malan Syndrome
Ventriculomegaly, Retrognathia, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla,... OMIM:614753
Cerebrofacioarticular Syndrome
Wide nasal bridge, Osteopenia, Anal stenosis, Ventriculomegaly, Hypoplasia of the maxilla, Trache... ORPHA:314679
Distal Xq28 Microduplication Syndrome
Epistaxis, Recurrent upper respiratory tract infections, Hypoplasia of the maxilla, Dental crowdi... ORPHA:293939
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Malar flattening, Hypodontia, Alveolar pro... ORPHA:2972
Stickler Syndrome, Type I
Bifid uvula, Depressed nasal bridge, Vitreoretinopathy, Anteverted nares, Micrognathia, Joint sti... OMIM:108300
Achondrogenesis, Type Ib
Abdominal distention, Micromelia, Respiratory insufficiency, Absent or minimally ossified vertebr... OMIM:600972
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Neonatal respiratory distress, Cardiomyopathy, Pulmonary hypoplasia OMIM:619003
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Depressed nasal bridge, Ventriculomegaly, Optic atrophy, Gastroesophageal reflux, Micrognathia, T... OMIM:619833
Autosomal Dominant Omodysplasia
Depressed nasal bridge, Rhizomelia, Short 1st metacarpal, Long philtrum, Micrognathia, Malar flat... ORPHA:93328
Greenberg Dysplasia
Fractured rib, Supernumerary vertebral ossification centers, Micrognathia, Decreased skull ossifi... OMIM:215140
Schneckenbecken Dysplasia
Hypoplastic scapulae, Stillbirth, Short nose, Malar flattening, Short ribs, Limb undergrowth, Pro... OMIM:269250
German Syndrome
Wide nasal bridge, Depressed nasal bridge, Limitation of joint mobility, Camptodactyly of finger,... ORPHA:2077
Juvenile Sialidosis Type 2
Optic atrophy, Cherry red spot of the macula, Abnormal heart morphology, Gingival overgrowth, Pro... ORPHA:93399
Degcags Syndrome
Oral-pharyngeal dysphagia, Feeding difficulties, Micrognathia, Protruding tongue, Cryptorchidism,... OMIM:619488
X-Linked Centronuclear Myopathy
Pneumonia, Poor suck, Respiratory distress, Feeding difficulties in infancy, High palate, Recurre... ORPHA:596
Primary Effusion Lymphoma
Pleural effusion, Abdominal distention, Dyspnea, Abdominal pain, Pericardial effusion ORPHA:48686
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Wide nasal bridge, Depressed nasal ridge, Abnormal optic nerve morphology, Underdeveloped nasal a... ORPHA:77300
Prader-Willi Syndrome Due To Translocation
Small hand, Carious teeth, Lateral ventricle dilatation, Micrognathia, Feeding difficulties in in... ORPHA:177907
Kleefstra Syndrome
Limitation of joint mobility, Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Bi... ORPHA:261494
Non-Distal Duplication 13Q
Abnormality of the dentition, Long philtrum, Micrognathia, Cryptorchidism, Everted lower lip verm... ORPHA:1702
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Microglossia, Retrognathia, Short thumb, Micrognathia, Narrow mouth, Fibular hy... OMIM:227270
Cohen Syndrome
High, narrow palate, Abnormality of the dentition, Hypoplasia of the maxilla, Optic atrophy, Hypo... ORPHA:193
Vitamin K Antagonist Embryofetopathy
Depressed nasal bridge, Choanal atresia, Optic atrophy, Short distal phalanx of finger, Respirato... ORPHA:1914
Alfadhel Syndrome
Retrognathia, Bulbous nose, Joint hypermobility, Smooth philtrum, Thin vermilion border, Short ph... OMIM:620655
Joubert Syndrome 18
Retrognathia, Ventricular septal defect, Joint hypermobility, Camptodactyly, Cleft palate, Lobula... OMIM:614815
Aarskog-Scott Syndrome
Wide nasal bridge, Short 5th finger, Hypoplasia of the maxilla, Elevated circulating luteinizing ... OMIM:305400
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Depressed nasal bridge, Hypoplastic scapulae, Stillbirth, Cleft upper lip, Aplasia of the distal ... OMIM:308050
Autosomal Recessive Multiple Pterygium Syndrome
Neonatal respiratory distress, Limitation of joint mobility, Long philtrum, Camptodactyly of fing... ORPHA:2990
Camptodactyly Syndrome, Guadalajara Type 1
Depressed nasal bridge, Short distal phalanx of finger, Dental malocclusion, Downturned corners o... ORPHA:1327
Pfeiffer Syndrome Type 2
Choanal atresia, Depressed nasal bridge, Small hand, Limitation of joint mobility, Tracheomalacia... ORPHA:93259
Codas Syndrome
Depressed nasal bridge, Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal de... ORPHA:1458
Cornelia De Lange Syndrome 2
Ventriculomegaly, Small hand, Gastroesophageal reflux, Downturned corners of mouth, Hypertrophic ... OMIM:300590
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Abnormal palate morphology, Convex nasal ridge, Short metatarsal, Mand... ORPHA:1540
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Wide nasal bridge, Cleft lip, Microretrognathia, Downturned corners of mouth, Long philtrum, Reti... OMIM:618571
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Short distal phalanx of finger, Recurrent upper respiratory tract infections, Hypoplasia of the m... OMIM:300534
Birk-Barel Syndrome
Bifid uvula, Tented upper lip vermilion, Submucous cleft soft palate, High palate, Short philtrum OMIM:612292
Crouzon Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Optic atrophy, ... OMIM:123500
Pycnodysostosis
Small hand, Carious teeth, Acromelia, Micrognathia, Delayed eruption of primary teeth, High palat... ORPHA:763
Distal Duplication 5Q
Carious teeth, Absent thumb, Long philtrum, Chorioretinal coloboma, Micrognathia, Narrow mouth, P... ORPHA:96097
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Lethal Congenital Contracture Syndrome 1
Neonatal death, Micrognathia, Arthrogryposis multiplex congenita, Pulmonary hypoplasia OMIM:253310
Pde4D Haploinsufficiency Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Short toe, Long philtrum, Upper limb undergrow... ORPHA:439822
Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Micrognathia, Narrow mouth, Cryptorchidism, Radioulnar synostosis, Atrial ... ORPHA:536471
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Wide nasal bridge, Osteopenia, Retrognathia, Feeding difficulties, Limb undergrowth, Atrial septa... OMIM:618005
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Arthrogryposis Multiplex Congenita 6
Death in infancy, Respiratory failure, Death in childhood, Neonatal death OMIM:619334
Combined Oxidative Phosphorylation Deficiency 31
Depressed nasal bridge, Left ventricular noncompaction, Bulbous nose, Hypertrophic cardiomyopathy... OMIM:617228
Auriculocondylar Syndrome 3
Micrognathia, Bifid uvula, Glossoptosis, Retrognathia OMIM:615706
Vacterl Association With Hydrocephalus
Anal atresia, Stillbirth, Respiratory failure, Respiratory insufficiency OMIM:276950
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Intestinal malrotation, Anteverted nares, Amelia, Decreased skull ossification, Testicular atroph... OMIM:601163
Smith-Magenis Syndrome
Wide nasal bridge, Depressed nasal bridge, Ventriculomegaly, Gastroesophageal reflux, Cleft upper... ORPHA:819
Mosaic Trisomy 16
Craniofacial asymmetry, Short forearm, Meckel diverticulum, Abnormality of the nose, Anteriorly p... ORPHA:1708
Lethal Faciocardiomelic Dysplasia
Hypoplastic left heart, Short 5th finger, Microretrognathia, Microglossia, Short tibia, Short thu... ORPHA:1972
Cornelia De Lange Syndrome 5
Depressed nasal bridge, Ventriculomegaly, Broad nasal tip, Small hand, Downturned corners of mout... OMIM:300882
Acrodysostosis
Wide nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Depressed nasal bridge, Dela... ORPHA:950
Desmosterolosis
Bifid uvula, Ventriculomegaly, Depressed nasal bridge, Retrognathia, Abnormality of the nose, Mic... ORPHA:35107
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Depressed nasal ridge, Rhizomelia, Micrognathia, Death in infancy, Hydrocephalus, Short palm, Sho... ORPHA:163966
Hurler Syndrome
Hypoplasia of the odontoid process, Endocardial fibroelastosis, Calvarial hyperostosis, Broad nas... OMIM:607014
Axenfeld-Rieger Syndrome
Wide nasal bridge, Depressed nasal bridge, Anal stenosis, Hypoplasia of the maxilla, Microdontia,... ORPHA:782
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Ventriculomegaly, Long philtrum, Micrognathia, Cryptorchidism, T... ORPHA:1988
Ramos-Arroyo Syndrome
Depressed nasal bridge, Carious teeth, Xerostomia, Smooth tongue, Long philtrum, Respiratory dist... ORPHA:1051
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Nasal polyposis, Neonatal respiratory distress, Situs inversus totalis, Recu... OMIM:608647
Autosomal Recessive Omodysplasia
Mesomelia, Depressed nasal bridge, Rhizomelia, Micromelia, Long philtrum, Anteverted nares, Micro... ORPHA:93329
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Small hand, Atrial septal defect, Dandy-Walker malformation, Anal atresia, Short foot, Choanal at... OMIM:300968
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Micrognathia, Abnormal cortical bone morphology, Recurrent fracture... ORPHA:1486
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Dental crowding, Abnormal heart valve morphology, Prominent nose, Microgna... ORPHA:228410
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Anteverted nares, Upper limb undergrowth, Pulmonary hypoplasia OMIM:613124
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Dandy-Walker malformation, Pulmonary hypoplasia ORPHA:3032
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Ventriculomegaly, Lateral ventricle dilatation, Micrognathia, Multiple joint contractures, Femur ... OMIM:618291
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Lateral ventricle dilatation, Retrognathia, Broad columella, Thick nasal alae, Bulbous nose, Depr... ORPHA:293725
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Crowded maxillary incisors ORPHA:397973
Bilateral Perisylvian Polymicrogyria
Ectopic posterior pituitary, Choanal atresia, Gastroesophageal reflux, Pseudobulbar paralysis, Mi... ORPHA:98889
Atelosteogenesis, Type Iii
Depressed nasal bridge, Hypoplasia of the maxilla, Rhizomelia, Micrognathia, Malar flattening, Cl... OMIM:108721
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Left ventricular hypertrophy, Flexion contracture, Feeding difficulties, Pu... OMIM:616733
Peho Syndrome
Optic atrophy, Retrognathia, Tented upper lip vermilion, Open mouth, Feeding difficulties in infa... OMIM:260565
Congenital Tracheomalacia
Ventricular septal defect, Atrial septal defect, Single ventricle, Gastroesophageal reflux, Trach... ORPHA:95430
Dysostosis, Stanescu Type
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of the zygomat... ORPHA:1798
Chromosome 17Q12 Duplication Syndrome
Micrognathia, Cleft soft palate, Smooth philtrum, Esophageal atresia, Atrial septal defect OMIM:614526
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Apnea, Death in infancy, Ventricular septal defect, Respiratory fail... OMIM:616277
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Wide nasal bridge, Ventriculomegaly, Dental crowding, Retrognathia, Thick lower lip vermilion, Pe... OMIM:618342
Desmosterolosis
Total anomalous pulmonary venous return, Ventriculomegaly, Hypoplastic nasal bridge, Joint contra... OMIM:602398
Carey-Fineman-Ziter Syndrome 1
Depressed nasal bridge, Ventriculomegaly, Microglossia, Broad nasal tip, Retrognathia, Gastroesop... OMIM:254940
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
5Q14.3 Microdeletion Syndrome
Ventriculomegaly, Anteverted nares, Feeding difficulties, Open mouth, Short philtrum, Short nose,... ORPHA:228384
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Depressed nasal bridge, Pulmonary cyst, Anteverted nares, Micrognathia, Protuberant abdomen OMIM:618272
Interstitial Pneumonitis, Desquamative, Familial
Cor pulmonale, Recurrent upper respiratory tract infections, Respiratory distress, Type II pneumo... OMIM:263000
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Orofaciodigital Syndrome Xv
Wide nasal bridge, Ventriculomegaly, Midline notch of upper alveolar ridge, Anteverted nares, Lob... OMIM:617127
Athyreosis
Macroglossia, Constipation, Feeding difficulties, Abdominal distention ORPHA:95713
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Cardiorespiratory arrest, Gastroesophageal reflux, Respiratory distress, ... ORPHA:3342
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Microglossia, Aplasia/Hypoplasia involving the nose, Respiratory distress, Narrow mouth, Situs in... ORPHA:990
Burn-Mckeown Syndrome
Bifid uvula, Choanal atresia, Bilateral choanal atresia, Cleft upper lip, Bilateral choanal atres... OMIM:608572
Familial Visceral Myopathy
Hyperparathyroidism, Camptodactyly of finger, Anteverted nares, Micrognathia, Prominent nasal bri... ORPHA:2604
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Wide nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Respiratory distress, Abnormality ... ORPHA:438216
Fetal Valproate Spectrum Disorder
Depressed nasal ridge, Downturned corners of mouth, Long philtrum, Narrow mouth, Thin vermilion b... ORPHA:1906
Trisomy 8Q
Wide nasal bridge, Camptodactyly of finger, Joint stiffness, Micrognathia, Cryptorchidism, Abnorm... ORPHA:1752
Chromosome 3Pter-P25 Deletion Syndrome
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Gastroesophageal reflux, Downturned c... OMIM:613792
X-Linked Intellectual Disability, Sutherland-Haan Type
Hypoplasia of the maxilla, Decreased testicular size, Anal atresia, Mandibular prognathia ORPHA:93950
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Wide nasal bridge, Ventriculomegaly, Gastroesophageal reflux, Velopharyngeal insufficiency, Long ... OMIM:614701
Myopathy, Centronuclear, 5
Bifid uvula, Dilated cardiomyopathy, Retrognathia, Respiratory insufficiency, Micrognathia, Narro... OMIM:615959
Treacher-Collins Syndrome
Open bite, Micrognathia, Narrow mouth, Cryptorchidism, High palate, Rectovaginal fistula, Thyroid... ORPHA:861
Intellectual Disability, Birk-Barel Type
High, narrow palate, Tongue fasciculations, Broad nasal tip, Foot joint contracture, Nasogastric ... ORPHA:166108
Musculocontractural Ehlers-Danlos Syndrome
Malrotation of small bowel, Cleft lip, Ventriculomegaly, Microretrognathia, Long philtrum, Abnorm... ORPHA:2953
Developmental And Epileptic Encephalopathy 75
Wide nasal bridge, Optic atrophy, Cardiomyopathy, Decreased liver function, Anteverted nares, Ope... OMIM:618437
Clark-Baraitser syndrome
Broad nasal tip, Exaggerated median tongue furrow, Thick lower lip vermilion, Anteverted nares, P... OMIM:300602
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Pursed lips, Narrow mouth, Cryptorchidism, Hip contracture, Feedin... OMIM:193700
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory failure, Respiratory insufficiency ORPHA:266
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Narrow palate, Abnormal lung lobation, Tooth agenesis, Micrognathia, Cryptorchidism, Abnormal pal... ORPHA:2063
Amyotrophic Lateral Sclerosis 28
Respiratory failure OMIM:620452
Stickler Syndrome
Open bite, Micrognathia, Mitral valve prolapse, Short hard palate, Abnormal vitreous humor morpho... ORPHA:828
Scedosporiosis
Pneumonia, Abnormal jejunum morphology, Bronchitis, Osteomyelitis, Respiratory failure, Arthralgi... ORPHA:449280
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Depressed nasal bridge, Ankle flexion contracture, Natal tooth, Volvulus, Micrognathia, Recurrent... OMIM:617802
Arthrogryposis, Distal, Type 5D
Hypermobility of distal interphalangeal joints, Elbow flexion contracture, Furrowed tongue, Bulbo... OMIM:615065
Distal Deletion 15Q
Hypoplastic left heart, Abnormality of the dentition, Small hand, Broad nasal tip, Short distal p... ORPHA:1596
Stickler Syndrome, Type Ii
High, narrow palate, Bifid uvula, Depressed nasal bridge, Anteverted nares, Micrognathia, Malar f... OMIM:604841
Mucopolysaccharidosis, Type Ix
Bifid uvula, Submucous cleft hard palate OMIM:601492
Down Syndrome
Duodenal stenosis, Tetralogy of Fallot, Atrioventricular canal defect, Protruding tongue, Complet... OMIM:190685
Zttk Syndrome
Small hand, Narrow mouth, Absent gallbladder, Ventricular septal defect, Feeding difficulties in ... OMIM:617140
Beare-Stevenson Cutis Gyrata Syndrome
Bifid uvula, Narrow palate, Ventriculomegaly, Natal tooth, Choanal atresia, Anteriorly placed anu... OMIM:123790
Osteopathia Striata-Cranial Sclerosis Syndrome