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
1P36 Deletion Syndrome
Camptodactyly of finger, Abnormality of the anus, Wide nasal bridge, Optic atrophy, Ocular albini... ORPHA:1606
Familial Isolated Dilated Cardiomyopathy
Abnormality of neutrophils ORPHA:154
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction 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 palate, Cleft lip OMIM:600625
Palatopharyngeal Incompetence
Cleft palate, Velopharyngeal insufficiency OMIM:167500
Uvula, Bifid
Bifid uvula OMIM:192100
Pierre Robin Syndrome
Cor pulmonale, Pierre-Robin sequence, Micrognathia, Feeding difficulties in infancy, Upper airway... OMIM:261800
Cleft Soft Palate
Cleft soft palate OMIM:119570
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
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
Nasogastric tube feeding in infancy, Aspiration pneumonia, Gastrostomy tube feeding in infancy, T... ORPHA:141152
Bifid Uvula
Submucous cleft soft palate, Bifid uvula, Cleft lip ORPHA:99771
Isolated Pierre Robin Syndrome
Neonatal respiratory distress, Cleft palate, Upper airway obstruction, Glossoptosis ORPHA:718
Lethal Osteosclerotic Bone Dysplasia
Retrognathia, Mandibular aplasia, Depressed nasal ridge, Micrognathia, Gingival fibromatosis, Res... ORPHA:1832
Bowen-Conradi Syndrome
Camptodactyly of finger, Prominent nose, Ventriculomegaly, Death in infancy, Micrognathia, Feedin... ORPHA:1270
9q subtelomeric deletion syndrome
Protruding tongue, Abnormal heart morphology, Short nose DECIPHER:52
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Knee flexion contracture, Unilateral wrist flexion contracture, Ventriculomegaly, Micrognathia, P... OMIM:616531
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Myasthenic Syndrome, Congenital, 8
Respiratory insufficiency, High palate OMIM:615120
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Chronic bronchitis, Diarrhea, Bronchiectasis, Malabsorption, Micrognathia, Macroglossia, Short no... OMIM:242860
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Lethal Congenital Contracture Syndrome 3
Respiratory insufficiency, Neonatal death OMIM:611369
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Micrognathia, Short distal phalanx of finger, Cleft palate, Glossoptosis OMIM:311895
Pallister-Hall-Like Syndrome
Short ribs, Anterior hypopituitarism, Micrognathia, Death in infancy, Hydrocephalus, Pulmonary hy... OMIM:241800
17Q21.31 Microduplication Syndrome
High palate, Micrognathia, Short philtrum, Short nose, Anteverted nares, Malar flattening, Abnorm... ORPHA:217340
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Retrognathia, Camptodactyly of finger, Abnormal lung lobation, Pulmonary hypoplasia, Mesomelia, T... ORPHA:2631
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Retrognathia, Knee flexion contracture, Distal arthrogryposis, Flexion contracture, High palate, ... OMIM:617468
Microphthalmia, Syndromic 12
Retrognathia, Ventricular septal defect, Wide nasal bridge, Micrognathia, Hypoplastic left atrium... OMIM:615524
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Camptodactyly of finger, Gastroesophageal reflux, Ventriculomegaly, Optic atrophy, Death in infan... ORPHA:1495
Auriculocondylar Syndrome 2
Dental malocclusion, Mandibular condyle hypoplasia, Temporomandibular joint ankylosis, Micrognath... OMIM:614669
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Micrognathia, Short nose, Thin upper lip vermilion, Anteverted nares, Cleft palate ORPHA:2015
Glaucoma-Sleep Apnea Syndrome
Respiratory insufficiency, Sleep apnea ORPHA:2085
Tonne-Kalscheuer Syndrome
Convex nasal ridge, Prominent nose, Wide nasal bridge, Widely spaced teeth, Decreased testicular ... OMIM:300978
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Tongue, Pigmented Fungiform Papillae Of
Abnormality of the tongue OMIM:275250
Catel-Manzke Syndrome
Camptodactyly of finger, Ventriculomegaly, Ventricular septal defect, Micrognathia, Oral synechia... ORPHA:1388
Peroxisome Biogenesis Disorder 10A (Zellweger)
High palate, Prominent nose, Death in infancy, Micrognathia, Epiphyseal stippling, Feeding diffic... OMIM:614882
Spinal Muscular Atrophy, Type I
Tongue fasciculations, Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:253300
Achondrogenesis Type 1A
Long philtrum, Short foot, Recurrent fractures, Aplasia/Hypoplasia of the lungs, Micrognathia, Ab... ORPHA:93299
Atelosteogenesis, Type Ii
Respiratory insufficiency, Death in infancy, Micrognathia, Pulmonary hypoplasia, Depressed nasal ... OMIM:256050
Cleft Palate With Or Without Ankyloglossia, X-Linked
Cleft palate, Ankyloglossia, Bifid uvula OMIM:303400
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Hypodontia, Bifid uvula, Cleft palate OMIM:119300
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Respiratory failure OMIM:208081
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Retrognathia, Ventricular septal defect, Bifid uvula, Hydrocephalus, Hypertrophic cardiomyopathy,... OMIM:612938
Marshall-Smith Syndrome
Retrognathia, Increased susceptibility to fractures, Ventriculomegaly, Optic atrophy, Craniosynos... ORPHA:561
Congenital Disorder Of Glycosylation, Type Iu
High palate, Optic atrophy, Death in infancy, Micrognathia, Respiratory distress, Short nose, Thi... OMIM:615042
Agnathia-Otocephaly Complex
Wide nose, Mandibular aplasia, Micrognathia, Secundum atrial septal defect, Pulmonary hypoplasia,... OMIM:202650
Pierre Robin Syndrome And Oligodactyly
Cleft palate, Pierre-Robin sequence OMIM:172880
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft lip, Tooth agenesis, Cleft palate ORPHA:1074
Raine Syndrome
Microdontia, Micrognathia, Increased bone mineral density, Pulmonary hypoplasia, Cleft palate, Gi... OMIM:259775
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory insufficiency, Apnea, Respiratory failure, Death in infancy OMIM:613869
14Q11.2 Microdeletion Syndrome
High palate, Long philtrum, Deep philtrum, Ventricular septal defect, Micrognathia, Short nose, E... ORPHA:261120
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cardiomegaly, Flexion contracture, Ventriculomegaly, Wide nasal bridge, Short ribs, Ventricular s... OMIM:616897
Poirier-Bienvenu Neurodevelopmental Syndrome
Open mouth, Downturned corners of mouth, Protruding tongue, Smooth philtrum OMIM:618732
Stickler Syndrome Type 1
Long philtrum, Mitral valve prolapse, Short nose, Hypoplasia of the maxilla, Joint hyperflexibili... ORPHA:90653
Perching Syndrome
Rod-cone dystrophy, High palate, Camptodactyly, Respiratory distress, Depressed nasal bridge, Dys... OMIM:617055
Congenital Arthrogryposis With Anterior Horn Cell Disease
Retrognathia, High palate, Micrognathia, Cryptorchidism, Respiratory failure, Feeding difficultie... OMIM:611890
Maxillonasal Dysplasia
Abnormal nostril morphology, Mandibular prognathia, Depressed nasal ridge, Microdontia, Short nos... ORPHA:1248
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Mandibular prognathia, Contractures of the large joints, Abnormal atrioventricula... ORPHA:324410
Developmental And Epileptic Encephalopathy 80
High palate, Long philtrum, Wide nasal bridge, Wide mouth, Death in infancy, Micrognathia, Ventri... OMIM:618580
Kleefstra Syndrome 1
Gastroesophageal reflux, Tracheobronchomalacia, Mandibular prognathia, Conotruncal defect, Natal ... OMIM:610253
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Primary Pulmonary Hypoplasia
Pneumothorax, Abnormal breath sound, Patellar hypoplasia, Asthma, Micrognathia, Secundum atrial s... ORPHA:2257
Periodontal Ehlers-Danlos Syndrome
Periodontitis, Microdontia, Premature loss of primary teeth, Atrophy of alveolar ridges, Microgna... ORPHA:75392
Blomstrand Lethal Chondrodysplasia
Aplastic clavicle, Long philtrum, Natal tooth, Short ribs, Rhizomelia, Micrognathia, Short metaca... ORPHA:50945
Teebi Hypertelorism Syndrome 1
Sagittal craniosynostosis, Long philtrum, Wide nasal bridge, Natal tooth, Small hand, Micrognathi... OMIM:145420
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Pontocerebellar Hypoplasia, Type 1C
Tongue fasciculations, Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:616081
Microcephaly 26, Primary, Autosomal Dominant
Patent foramen ovale, Long philtrum, Wide nasal bridge, Ventriculomegaly, Prominent nasal bridge,... OMIM:619179
Congenital Myopathy 14
Knee flexion contracture, Flexion contracture, High palate, Hip contracture, Death in infancy, El... OMIM:618414
Congenital Disorder Of Glycosylation, Type Iie
Respiratory insufficiency, Wide nose, Retrognathia, Gastroesophageal reflux, Death in infancy, Pe... OMIM:608779
Diaphanospondylodysostosis
Respiratory insufficiency, Absent in utero ossification of vertebral bodies, Depressed nasal ridg... OMIM:608022
Non-Distal Trisomy 10Q
Convex nasal ridge, High palate, Micrognathia, Short nose, Everted lower lip vermilion, Depressed... ORPHA:1695
Nemaline Myopathy 9
Respiratory insufficiency, High palate, Ventricular septal defect, Micrognathia, Cleft palate, Ar... OMIM:615731
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Central apnea, Respiratory failure, Death in infancy OMIM:611722
Dyssegmental Dysplasia, Silverman-Handmaker Type
Respiratory insufficiency, Flexion contracture, Wide nasal bridge, Short ribs, Micrognathia, Hydr... ORPHA:1865
Achondrogenesis, Type Ia
Hypoplastic sacrum, Short ribs, Hypoplasia of the radius, Abnormal foot bone ossification, Pulmon... OMIM:200600
20P12.3 Microdeletion Syndrome
Long philtrum, Wide nasal bridge, Ventriculomegaly, Atrial septal defect, Hypoplasia of the maxil... ORPHA:261295
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Respiratory insufficiency, 11 pairs of ribs, Congenital laryngeal stridor, Wide nasal bridge, Hyp... OMIM:618356
Hypoglossia With Situs Inversus
High palate, Hypodontia, Micrognathia, Feeding difficulties in infancy, Respiratory distress, Mal... OMIM:612776
Peho-Like Syndrome
Retrognathia, Ventriculomegaly, Optic atrophy, Short nose, Feeding difficulties, Open mouth OMIM:617507
Multiple Pterygium Syndrome, X-Linked
Increased susceptibility to fractures, Cleft upper lip, Flexion contracture, Vertebral fusion, De... OMIM:312150
Fetal Akinesia Deformation Sequence
Respiratory insufficiency, Camptodactyly of finger, Multiple joint contractures, Micrognathia, Pu... ORPHA:994
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect, Glossoptosis, Death in infancy OMIM:614876
Achondrogenesis Type 2
Pierre-Robin sequence, Abnormal bone ossification, Short ribs, Delayed vertebral ossification, Ab... ORPHA:93296
Acrocallosal Syndrome
Everted upper lip vermilion, Wide nasal bridge, Optic atrophy, Abnormal cardiac septum morphology... OMIM:200990
Gaucher Disease, Perinatal Lethal
Retrognathia, Hepatic failure, Everted upper lip vermilion, Ventriculomegaly, Micrognathia, Pulmo... OMIM:608013
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory failure, Respiratory insufficiency due to muscle weakness, Death in adolescence OMIM:300717
Mulibrey Nanism
Wide nose, Dental malocclusion, Enamel hypoplasia, Cardiomegaly, Ventriculomegaly, Wide nasal bri... OMIM:253250
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect, Wide mouth, Short nose, Delayed eruption of permanent teeth, Anteverte... OMIM:618506
Robin Sequence-Oligodactyly Syndrome
Micrognathia, Hand oligodactyly, Cleft palate, Glossoptosis, Abnormality of the dentition ORPHA:3104
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Retrognathia, Ventriculomegaly, Poor suck, Episodic tachypnea, Micrognathia, Apneic episodes in i... ORPHA:163961
Cleft Velum
Aspiration pneumonia, Cleft soft palate, Poor suck, Velopharyngeal insufficiency, Hypoplasia of t... ORPHA:99772
Gillessen-Kaesbach-Nishimura Syndrome
Underdeveloped nasal alae, Retrognathia, Convex nasal ridge, Flexion contracture, Micrognathia, A... OMIM:263210
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Convex nasal ridge, Short 5th metacarpal, Short middle phalanx of the 5th finger, Short middle ph... OMIM:156510
Peroxisome Biogenesis Disorder 1A (Zellweger)
High palate, Death in childhood, Ventricular septal defect, Dysphagia, Micrognathia, Epiphyseal s... OMIM:214100
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Retrognathia, Feeding difficulties in infancy, Short nose, Broad nasal tip, Malar flattening, Ope... OMIM:613670
Sandestig-Stefanova Syndrome
Retrognathia, Convex nasal ridge, High palate, Ventriculomegaly, Wide nasal bridge, Perimembranou... OMIM:618804
Frontonasal Dysplasia 1
Wide nasal bridge, Hypoplastic frontal sinuses, Joint contracture of the hand, Bifid nose, Campto... OMIM:136760
Cleft Palate, Isolated
Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion OMIM:119540
Icf Syndrome
Malabsorption, Micrognathia, Communicating hydrocephalus, Macroglossia, Depressed nasal bridge, P... ORPHA:2268
Craniofacial-Deafness-Hand Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Short nose... ORPHA:1529
Dyssegmental Dysplasia, Silverman-Handmaker Type
Respiratory insufficiency, Wide nasal bridge, Micrognathia, Pulmonary hypoplasia, Micromelia, Nar... OMIM:224410
Genitopatellar Syndrome
Wide nose, Knee flexion contracture, Gastroesophageal reflux, Prominent nose, Long philtrum, Pate... ORPHA:85201
Intellectual Developmental Disorder, X-Linked 91
Short 5th finger, High palate, Small hand, Short nose, Short foot, Macrodontia OMIM:300577
Congenital Disorder Of Glycosylation, Type Iia
Retrognathia, Ventricular septal defect, Wide mouth, Prominent nasal bridge, Diastema, Everted lo... OMIM:212066
Kagami-Ogata Syndrome
Pulmonary arterial hypertension, Retrognathia, Flexion contracture, Long philtrum, Ventricular se... OMIM:608149
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Retrognathia, High palate, Ventriculomegaly, Optic atrophy, Respirator... OMIM:615330
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Respiratory tract infection, Flexion contracture, High palate, Ventriculomegaly, Wide nasal bridg... OMIM:218000
Multiple Pterygium Syndrome, Lethal Type
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Depressed nasal rid... OMIM:253290
Qazi-Markouizos Syndrome
High, narrow palate, Prominent nasal bridge, Chronic constipation, Delayed ossification of carpal... ORPHA:3010
Intellectual Developmental Disorder, Autosomal Dominant 58
High palate, Wide nasal bridge, Wide mouth, Submucous cleft hard palate, Joint hypermobility, Pro... OMIM:618106
Lethal Congenital Contracture Syndrome 11
Retrognathia, Pulmonary hypoplasia OMIM:617194
Odontochondrodysplasia 1
Dentinogenesis imperfecta, Long philtrum, Short metacarpal, Delayed eruption of teeth, Death in i... OMIM:184260
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Convex nasal ridge, Abnormal mitral valve morphology, Micrognathia, Abnormal palate morphology, T... ORPHA:1277
Bencze Syndrome
Submucous cleft hard palate, Open bite ORPHA:1241
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Osteolysis, Broad nasal tip, Short distal phalanx of finger, Abnormali... ORPHA:2776
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Hypoventilation, High palate, Aspiration pneumonia, Deep philtrum, Micrognathia, Feeding difficul... ORPHA:314655
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Cleft palate, Bifid uvula, Submucous cleft hard palate ORPHA:2521
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Gastroesophageal reflux, Mandibular prognathia, Ventricular septal defect, Poor suck, Perimembran... OMIM:301040
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Patent foramen ovale, Flexion contracture, High palate, Secundum atrial septal defect, Pulmonary ... OMIM:616866
Hypomandibular Faciocranial Dysostosis
Choanal stenosis, Coronal craniosynostosis, Micrognathia, Atrial septal defect, Hypoplasia of the... OMIM:241310
Congenital Disorder Of Glycosylation, Type Iy
Wide mouth, Widely spaced teeth, Micrognathia, Respiratory distress, Feeding difficulties OMIM:300934
Mandibulofacial Dysostosis With Alopecia
Delayed eruption of primary teeth, Wide nasal bridge, Micrognathia, Bicuspid aortic valve, Dental... OMIM:616367
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Wide nasal bridge, Pulmonary hypoplasia, Smooth philtrum, Patent foramen ovale, Double outlet rig... OMIM:618316
Achondrogenesis
Long philtrum, Abnormal enchondral ossification, Aplasia/Hypoplasia of the lungs, Micrognathia, S... ORPHA:932
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Hypoplastic frontal sinuses, Abnormal cardiac septum morphology, Microgn... ORPHA:90652
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure, Cheyne-Stokes respiration OMIM:618328
Cleft Lip/Palate
Dental malocclusion, Abnormal number of permanent teeth, Unilateral cleft palate, Poor suck, Agen... ORPHA:199306
Odontochondrodysplasia
Retrognathia, Dentinogenesis imperfecta, Delayed eruption of teeth, Death in infancy, Respiratory... ORPHA:166272
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Retrognathia, High palate, Chronic bronchitis, Diarrhea, Short nose, Depressed nasal bridge, Recu... OMIM:614069
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Respiratory failure, High palate, Respiratory distress, Restrictive ve... OMIM:614399
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Mandibular prognathia, High palate, Ventriculomegaly, Prominent crus of helix, Joint hypermobilit... OMIM:617804
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Mandibular prognathia, Poor suck, Wide mouth, Widely spaced teeth, Protruding tongue, Dysphagia, ... ORPHA:98795
Primary Ciliary Dyskinesia
Ventriculomegaly, Bronchiectasis, Productive cough, Airway obstruction, Wheezing, Double outlet r... ORPHA:244
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Respiratory insufficiency, Pulmonary arterial hypertension, Gastroesophageal reflux, Hypoventilat... ORPHA:258
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Cleft upper lip, Atrophic gastritis, Cleft palate OMIM:137215
Oculocerebrofacial Syndrome, Kaufman Type
Retrognathia, Respiratory failure, Optic atrophy, Choroideremia, Wide mouth, Microdontia, Abnorma... ORPHA:2707
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Wide nasal bridge, Abnormal lip mo... ORPHA:2759
Alg3-Cdg
Cardiomyopathy, High palate, Abnormal uvula morphology, Pulmonary hypoplasia, Macroglossia, Osteo... ORPHA:79321
Developmental And Epileptic Encephalopathy 100
Enamel hypoplasia, Bilateral camptodactyly, Gastroesophageal reflux, High palate, Small hand, Ven... OMIM:619777
Fetal Akinesia Deformation Sequence 2
Respiratory insufficiency, Flexion contracture, High palate, Wide nasal bridge, Micrognathia, Fee... OMIM:618388
Cleft Palate-Lateral Synechia Syndrome
Everted lower lip vermilion, Cleft palate, Oral synechia, Narrow mouth ORPHA:2016
Dislocation Of The Hip-Dysmorphism Syndrome
Depressed nasal ridge, Wide nasal bridge, Abnormal cardiac septum morphology, Prominence of the p... ORPHA:2412
Lethal Recessive Chondrodysplasia
Micrognathia, Macroglossia, Respiratory distress, Generalized osteosclerosis, Limb undergrowth, M... ORPHA:1423
Tetrasomy 5P
Pulmonary arterial hypertension, High palate, Long philtrum, Wide nasal bridge, Micrognathia, Hyd... ORPHA:3309
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatic failure, High palate, Ventriculomegaly, Wide nasal bridge, Death in infancy, Ventricular ... OMIM:235255
Chromosome 6Q11-Q14 Deletion Syndrome
High palate, Long philtrum, Micrognathia, Bilateral cryptorchidism, Joint laxity, Short nose, Thi... OMIM:613544
Variant Abeta2M Amyloidosis
Intestinal perforation, Pathologic fracture, Cardiac amyloidosis, Abnormal salivary gland morphol... ORPHA:314652
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue fasciculations, Respiratory failure, Tongue atrophy OMIM:613435
Autosomal Recessive Amelia
Non-midline cleft lip, Abnormal cardiac septum morphology, Aplasia/Hypoplasia of the lungs, Micro... ORPHA:1027
Lujan-Fryns Syndrome
Camptodactyly of finger, Macroorchidism, High palate, Micrognathia, Short philtrum, Atrial septal... ORPHA:776
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Long philtrum, Wide nasal bridge, Ventriculomegaly, Micrognathia, Hydrocephalus, Unilambdoid syno... OMIM:618577
Microcephaly-Capillary Malformation Syndrome
Wide nose, Patent foramen ovale, Ventricular septal defect, Optic atrophy, Atrial septal defect, ... OMIM:614261
Lowry-Maclean Syndrome
Midgut malrotation, Talon cusp, Retrognathia, Convex nasal ridge, Short nasal bridge, Delayed eru... ORPHA:2409
Omphalocele-Cleft Palate Syndrome, Lethal
Cleft palate, Bifid uvula, Death in infancy OMIM:258320
Auriculocondylar Syndrome
Difficulty in tongue movements, Dental malocclusion, Mandibular condyle hypoplasia, Micrognathia,... ORPHA:137888
Angelman Syndrome
Mandibular prognathia, Wide mouth, Widely spaced teeth, Feeding difficulties in infancy, Macroglo... OMIM:105830
Fontaine Progeroid Syndrome
Respiratory insufficiency, Convex nasal ridge, Pneumothorax, Recurrent aspiration pneumonia, Micr... OMIM:612289
Whistling Face Syndrome, Recessive Form
Underdeveloped nasal alae, Knee flexion contracture, High palate, Long philtrum, Micrognathia, El... OMIM:277720
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Fryns Syndrome
Non-midline cleft lip, Ventriculomegaly, Wide nasal bridge, Ectopic anus, Abnormal cardiac septum... ORPHA:2059
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Pulmonary arterial hypertension, Retrognathia, Mandibular prognathia, Flexion contracture, Promin... ORPHA:391372
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Gastroesophageal reflux, High palate, Pierre-Robin sequence, Wide nasal bridge, Micrognathia, Bul... OMIM:613604
Microcephaly-Micromelia Syndrome
Wide nose, Short tibia, Absent thumb, Convex nasal ridge, Aqueductal stenosis, Humeroradial synos... OMIM:251230
Platyspondylic Dysplasia, Torrance Type
Short foot, Pulmonary hypoplasia, Abdominal distention, Depressed nasal bridge, Malar flattening,... ORPHA:85166
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Dental malocclusion, Contractures of the large joints, High palate, Optic atrophy, Deep philtrum,... ORPHA:329178
Cleft Lip With Or Without Cleft Palate
Non-midline cleft lip, Submucous cleft of soft and hard palate, Chronic sinusitis, Median cleft l... ORPHA:1991
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Gastroesophageal reflux, Optic atrophy, Wide mouth, Micrognathia, Short nose, Thin upper lip verm... OMIM:615419
Marden-Walker Syndrome
High palate, Long philtrum, Joint contracture of the hand, Micrognathia, Pyloric stenosis, Campto... OMIM:248700
Intestinal Dysmotility Syndrome
Decreased intestinal transit time, High palate, Diarrhea, Projectile vomiting, Abdominal distenti... OMIM:620045
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Retrognathia, Prenatal death, High palate, Wide nasal bridge, Micrognathia, Cam... OMIM:618393
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Wide mouth, Short philtrum, Short nose, Everted lower lip vermilion, Thin ... ORPHA:2429
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Aplasia/Hypoplasia of the lungs, Micrognathia, Short nose, Micromelia, Cleft ... ORPHA:2145
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Wide nasal bridge, Widely spaced teeth, Short metacarpal, Retinal pigment epithelial mottling, Re... OMIM:617102
Edinburgh Malformation Syndrome
Respiratory insufficiency, Micrognathia, Hydrocephalus, Short nose, Downturned corners of mouth, ... ORPHA:1895
3C Syndrome
Atrioventricular canal defect, Ventriculomegaly, Wide nasal bridge, Optic atrophy, Ectopic anus, ... ORPHA:7
Angelman Syndrome Due To A Point Mutation
Mandibular prognathia, Poor suck, Wide mouth, Widely spaced teeth, Protruding tongue, Dysphagia, ... ORPHA:411511
Melanocytic Nevus Syndrome, Congenital
Long philtrum, Deep philtrum, Narrow nasal ridge, Prominence of the premaxilla, Short nose, Evert... OMIM:137550
Mitochondrial Myopathy And Sideroblastic Anemia
Micrognathia, High palate, Long philtrum, Short nose ORPHA:2598
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Wide nasal bridge, Micrognathia, Short philtrum, Respiratory distress, Feeding difficulties, Thin... ORPHA:261304
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Respiratory insufficiency, Short tibia, Bifid tongue, Hypoplastic facial bones, Pulmonary hypopla... OMIM:616300
Chromosome 13Q33-Q34 Deletion Syndrome
Irregular dentition, Wide nasal bridge, Delayed eruption of teeth, Micrognathia, Camptodactyly, P... OMIM:619148
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Flexion contracture, High palate, Long philtrum, Wide nasal bridge, Optic atrophy, Ventriculomega... OMIM:619383
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Respiratory insufficiency, Convex nasal ridge, Optic atrophy, Hydrocephalus, Hypoplasia of the ma... ORPHA:93262
Kleefstra Syndrome Due To 9Q34 Microdeletion
Conotruncal defect, Ventriculomegaly, Abnormal testis morphology, Abnormal cardiac septum morphol... ORPHA:96147
Periventricular Nodular Heterotopia 7
Knee flexion contracture, Pierre-Robin sequence, Ventricular septal defect, Micrognathia, Dental ... OMIM:617201
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence OMIM:192445
Achondrogenesis Type 1B
Long philtrum, Abnormal enchondral ossification, Aplasia/Hypoplasia of the lungs, Micrognathia, S... ORPHA:93298
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Congenital Muscular Dystrophy, Ullrich Type
Knee flexion contracture, Hyperextensibility at wrists, Flexion contracture, Increased laxity of ... ORPHA:75840
Burn-Mckeown Syndrome
Wide nasal bridge, Abnormal cardiac septum morphology, Short nose, Bilateral choanal atresia, Abn... ORPHA:1200
Split-Hand/Foot Malformation 3
High palate, Camptodactyly, Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Cleft palate OMIM:246560
Cohen Syndrome
Convex nasal ridge, Decreased response to growth hormone stimulation test, Macrodontia of permane... OMIM:216550
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Retrognathia, Camptodactyly of finger, Flexion contracture, Wide mouth, Death in infancy, Abnorma... ORPHA:1194
Chung-Jansen Syndrome
High palate, Long philtrum, Micrognathia, Short philtrum, Short nose, Joint hypermobility, Anteve... OMIM:617991
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Abnormal oral cavity morphology, Depressed nasal ridge, Short nose, Narrow mouth, Anteverted nares ORPHA:1355
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Long philtrum, Microretrognathia, Short nose, Abnormal palate morphology, Recurrent respiratory i... ORPHA:1389
Hypomandibular Faciocranial Dysostosis
Choanal stenosis, Aplasia/Hypoplasia of the tongue, Recurrent respiratory infections, Death in in... ORPHA:1790
Coffin-Lowry Syndrome
Ventriculomegaly, Optic atrophy, Delayed eruption of teeth, Feeding difficulties in infancy, Ever... ORPHA:192
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Ventriculomegaly, Multiple joint contractures, Abnormality of the tong... ORPHA:370968
Auriculocondylar Syndrome 1
Dental malocclusion, Mandibular condyle hypoplasia, Micrognathia, Dental crowding, Ankylosis, Apn... OMIM:602483
Brachytelephalangic Chondrodysplasia Punctata
Vertebral hypoplasia, Stippling of the epiphyses of the distal phalanges of the hand, Epiphyseal ... ORPHA:79345
Eosinophilia, Familial
Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia OMIM:131400
Lethal Congenital Contracture Syndrome 10
Convex nasal ridge, High palate, Hypoplasia of the thymus, Narrow palate, Long philtrum, Ventricu... OMIM:617022
Aarskog-Scott Syndrome
Camptodactyly of finger, Cleft upper lip, Long philtrum, Wide nasal bridge, Delayed eruption of t... ORPHA:915
Maxillonasal Dysplasia, Binder Type
Dental malocclusion, Short nose, Short columella, Depressed nasal bridge, Short distal phalanx of... OMIM:155050
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Long philtrum, Micrognathia, Cleft palate, Malar flattening, Glossoptosis, Osteoarthritis ORPHA:166100
Immunodeficiency 95
Respiratory failure, Respiratory distress, Recurrent viral pneumonia OMIM:619773
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Optic atrophy, Death in infancy, Micrognathia, Feeding difficulties in infancy, Depressed nasal b... OMIM:618766
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Long philtrum, Ventricular septal defect, Short ribs, Hypoplasia of the radius, Pulmonary hypopla... OMIM:617895
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Widely-spaced incisors, Optic atrophy, Hypoplasia of the maxilla, Thin upper lip vermilion, Smoot... OMIM:618737
Mandibulofacial Dysostosis-Microcephaly Syndrome
Micrognathia, Atrial septal defect, Short nose, Hypoplasia of the maxilla, Accessory oral frenulu... ORPHA:79113
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Microdontia, Micrognathia, Short distal phalanx of toe, Short nose, Atrial septal defect, Narrow ... OMIM:619356
Facial Paresis, Hereditary Congenital, 3
High palate, Micrognathia, Short philtrum, Short nose, Downturned corners of mouth, Depressed nas... OMIM:614744
Combined Oxidative Phosphorylation Deficiency 8
Death in infancy, Pulmonary hypoplasia, Hypertrophic cardiomyopathy, Cardiomegaly, Feeding diffic... OMIM:614096
Oculofaciocardiodental Syndrome
Abnormal cardiac septum morphology, Delayed eruption of teeth, Feeding difficulties in infancy, P... ORPHA:2712
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gastrostomy tube feeding in infancy, Wide mouth, Depressed nasal bridge, Protruding tongue, Antev... OMIM:618797
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Mandibular prognathia, Poor suck, Wide mouth, Limitation of movement at ankles, Widely spaced tee... ORPHA:98794
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory insufficiency, Reduced maximal inspiratory pressure, Abnormal respiratory system phys... ORPHA:266
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Poor suck, Micrognathia, Dilated cardiomyopathy, Respiratory distress, Respiratory insufficiency ... OMIM:300580
Perlman Syndrome
Retrognathia, Wide nasal bridge, Broad alveolar ridges, Micrognathia, Abnormal upper lip morpholo... ORPHA:2849
Crouzon Syndrome
Respiratory insufficiency, Convex nasal ridge, Narrow palate, Optic atrophy, Hydrocephalus, Hypop... ORPHA:207
Meckel Syndrome, Type 8
Cleft upper lip, Depressed nasal ridge, Pericardial effusion, Abdominal distention, Short nose, C... OMIM:613885
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Deep philtrum, Thick lower lip vermilion, Hydrocephalus, Short nose, Hypertrophic cardiomyopathy,... ORPHA:2701
Okur-Chung Neurodevelopmental Syndrome
High palate, Wide nasal bridge, Micrognathia, Joint hypermobility, Thin upper lip vermilion, Prot... OMIM:617062
Down Syndrome
Narrow palate, Depressed nasal ridge, Thick lower lip vermilion, Microdontia, Aganglionic megacol... ORPHA:870
Orofaciodigital Syndrome Xix
Underdeveloped nasal alae, Lobulated tongue, Retrognathia, Narrow palate, Cleft soft palate, Wide... OMIM:620107
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, High palate, Chronic constipation, Hypoplasia of the maxilla, Prominent na... OMIM:300676
Pierpont Syndrome
Wide nose, Short toe, Short foot, Prominent median palatal raphe, Widely spaced teeth, Short fing... OMIM:602342
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia, Pulmonary hypoplasia, Arthrogryposis multiplex congenita OMIM:601809
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Short philtrum, Camptodactyly, Atrial septal defect, Protruding tongue... OMIM:300963
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Choanal stenosis, Narrow nasal ridge, Pulmonary hypoplasia, Microretrognathia, Anteverted nares, ... OMIM:236500
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism, Flexion contracture, High palate, Ventricular septal defect, Deep philtrum, Hyper... OMIM:309520
Neurogenic Arthrogryposis Multiplex Congenita
Knee flexion contracture, Wrist flexion contracture, Flexion contracture, Hip contracture, Microg... ORPHA:1143
Al Amyloidosis
Abnormal pulmonary interstitial morphology, Macroglossia, Abdominal distention, Gastroparesis, Hy... ORPHA:85443
Cofs Syndrome
Camptodactyly of finger, Wide nasal bridge, Optic atrophy, Abnormal nasal morphology, Micrognathi... ORPHA:1466
Robinow Syndrome, Autosomal Recessive 2
Cleft soft palate, Wide nasal bridge, Long philtrum, Micrognathia, Bicuspid aortic valve, Camptod... OMIM:618529
Orofaciodigital Syndrome Type 4
Camptodactyly of finger, Micrognathia, Bifid uvula, Pulmonary hypoplasia, Abnormal oral frenulum ... ORPHA:2753
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Cleft soft palate, Oligodontia of primary teeth OMIM:216300
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Respiratory insufficiency, Depressed nasal ridge, Aplasia/Hypoplasia of the lungs, Micrognathia, ... ORPHA:1046
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal cardiac septum morphology, Short nose, Narrow mouth, Thin vermilion border, Reduced bone... ORPHA:2370
14Q24.1Q24.3 Microdeletion Syndrome
Long philtrum, Wide nasal bridge, Truncus arteriosus, Ventricular septal defect, Joint laxity, At... ORPHA:401935
Tarp Syndrome
Short sternum, Pierre-Robin sequence, Wide nasal bridge, Optic atrophy, Abnormal duodenum morphol... ORPHA:2886
Congenital Disorder Of Glycosylation, Type Ie
Knee flexion contracture, Retinopathy, Upper limb undergrowth, Small hand, Abnormal macular morph... OMIM:608799
Nager Syndrome
Respiratory insufficiency, Non-midline cleft lip, Aplasia/Hypoplasia of the thumb, Wide mouth, Ab... ORPHA:245
Pfeiffer Syndrome
Choanal stenosis, Mandibular prognathia, High palate, Short middle phalanx of toe, Humeroradial s... OMIM:101600
Glutamine Deficiency, Congenital
Neonatal death, Flexion contracture, Wide nasal bridge, Lateral ventricle dilatation, Camptodacty... OMIM:610015
Leukocyte Adhesion Deficiency Type Ii
Mandibular prognathia, Narrow palate, Depressed nasal ridge, Wide nasal bridge, Deep philtrum, Se... ORPHA:99843
Dental Anomalies And Short Stature
Mandibular prognathia, Widely spaced teeth, Microdontia, Oligodontia, Mitral valve prolapse, Hypo... OMIM:601216
Cardioacrofacial Dysplasia 1
Conical tooth, Atrioventricular canal defect, Overhanging nasal tip, Short philtrum, Diastema, Hy... OMIM:619142
Chromosome 1Q41-Q42 Deletion Syndrome
Cleft upper lip, High palate, Ventriculomegaly, Deep philtrum, Widely spaced teeth, Ventricular s... OMIM:612530
Adducted Thumbs Syndrome
Respiratory insufficiency, High palate, Velopharyngeal insufficiency, Cleft palate, High, narrow ... OMIM:201550
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Knee flexion contracture, Hip contracture, Wide nasal bridge, Hyperext... OMIM:313420
Congenital Sialidosis Type 2
Respiratory tract infection, Optic atrophy, Hydrocephalus, Hypoplasia of the fovea, Protruding to... ORPHA:93400
Myotubular Myopathy With Abnormal Genital Development
Retrognathia, High palate, Death in infancy, Bilateral cryptorchidism, Respiratory distress, Join... OMIM:300219
Van Der Woude Syndrome 2
Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate OMIM:606713
Diarrhea 12, With Microvillus Atrophy
Respiratory tract infection, Vomiting, Villous atrophy, Bronchiectasis, Dependency on parenteral ... OMIM:619445
Cutis Laxa, Autosomal Recessive, Type Ic
Hypoplasia of the thymus, Wide nasal bridge, Micrognathia, Pulmonary hypoplasia, Peripheral pulmo... OMIM:613177
Short-Rib Thoracic Dysplasia 12
Respiratory insufficiency, Pulmonary hypoplasia, Median cleft lip, Limb undergrowth, Short palm, ... OMIM:269860
Marshall Syndrome
Thick upper lip vermilion, High palate, Long philtrum, Wide nasal bridge, Hypoplastic frontal sin... ORPHA:560
Baker-Gordon Syndrome
Gastroesophageal reflux, Prominent nasal tip, Joint laxity, Short nose, Thin upper lip vermilion,... OMIM:618218
Mesomelic Limb Shortening And Bowing
Retrognathia, Mesomelic leg shortening, Camptodactyly of finger, Micrognathia, Cleft palate, Meso... OMIM:249710
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short toe, Wide nasal bridge, Short metacarpal, Capitate-hamate fusion, Micrognathia, Coronal cra... OMIM:614078
Adenylosuccinate Lyase Deficiency
Long philtrum, Short nose, Thin upper lip vermilion, Anteverted nares, Smooth philtrum ORPHA:46
Lowry-Maclean Syndrome
Convex nasal ridge, Delayed eruption of teeth, Abnormal heart morphology, Cleft palate, Craniosyn... OMIM:600252
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Lobulated tongue, Dilated fourth ventricle, Ventriculomegaly, Lateral ventricle dilatation, Short... OMIM:613443
Fetal Trimethadione Syndrome
High palate, Ventricular septal defect, Micrognathia, Atrial septal defect, Short nose, Depressed... ORPHA:1913
Mandibulofacial Dysostosis, Guion-Almeida Type
Ventricular septal defect, Deep philtrum, Esophageal atresia, Micrognathia, Feeding difficulties ... OMIM:610536
Rhiny
Thin vermilion border, Anteverted nares, Short nose OMIM:180360
Stuve-Wiedemann Syndrome 1
Respiratory insufficiency, Short tibia, Micrognathia, Elbow flexion contracture, Camptodactyly, P... OMIM:601559
Tetraamelia Syndrome 2
Hypoplastic pulmonary veins, Ventricular septal defect, Bilateral lung agenesis, Bilateral cleft ... OMIM:618021
Osteolysis Syndrome, Recessive
Knee flexion contracture, Elbow flexion contracture, Hypoplasia of the maxilla, Metacarpal osteol... OMIM:259610
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Feeding difficulties in infancy, ... ORPHA:226313
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Short toe, High palate, Pierre-Robin sequence, Long philtrum, Short 5th metacar... OMIM:617877
Treacher Collins Syndrome 4
Choanal stenosis, Micrognathia, Feeding difficulties in infancy, Malar flattening, Respiratory fa... OMIM:618939
Neuralgic Amyotrophy
Respiratory insufficiency, Cleft palate, Narrow mouth ORPHA:2901
Temtamy Preaxial Brachydactyly Syndrome
Optic atrophy, Microdontia, Micrognathia, Abnormal optic disc morphology, Short hallux, Short pal... ORPHA:363417
Laryngeal Abductor Paralysis
Respiratory insufficiency ORPHA:2808
Congenital Myopathy 1B, Autosomal Recessive
Respiratory insufficiency, High palate, Feeding difficulties in infancy, Joint laxity, Pulmonary ... OMIM:255320
Cataract-Intellectual Disability-Hypogonadism Syndrome
High palate, Micrognathia, Feeding difficulties in infancy, Short philtrum, Everted lower lip ver... ORPHA:1387
Teebi Hypertelorism Syndrome 2
High palate, Delayed eruption of teeth, Microdontia, Short nose, Everted lower lip vermilion, Thi... OMIM:619736
Arthrogryposis, Distal, Type 2E
Distal arthrogryposis, Foot joint contracture, Joint contracture of the hand, Micrognathia, Narro... OMIM:121070
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Camptodactyly of finger, High palate, Decreased testicular size, Hypoplasia of the maxilla, Crypt... ORPHA:85279
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Wide nasal bridge, Microdontia, Hypodontia, Hydrocephalus, Short philtrum,... OMIM:601499
Mosaic Trisomy 1
Short upper lip, Camptodactyly of finger, Ventricular septal defect, Wide nasal bridge, Wide mout... ORPHA:1692
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Respiratory insufficiency, Median cleft palate ORPHA:2432
Acrodysostosis
Short toe, Mandibular prognathia, Depressed nasal ridge, Wide nasal bridge, Delayed eruption of t... ORPHA:950
Ring Chromosome 8 Syndrome
Abnormal palate morphology, Anteverted nares, Short nose ORPHA:1450
Ring Chromosome 22 Syndrome
Pleural effusion, Wide nasal base, Protruding tongue, Bulbous nose, Thick vermilion border ORPHA:1446
8Q22.1 Microdeletion Syndrome
Camptodactyly of finger, Abnormal nostril morphology, Long philtrum, Wide nasal bridge, Depressed... ORPHA:178303
Distal Tetrasomy 15Q
Retrognathia, Flexion contracture, High palate, Micrognathia, Hydrocephalus, Camptodactyly, Hydro... ORPHA:314588
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Tongue fasciculations, Respiratory failure, Joint laxity OMIM:600561
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Mandibular prognathia, Short nose, Joint hypermobility, Tented upper lip vermilio... OMIM:300143
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip OMIM:179400
Encephalopathy Due To Sulfite Oxidase Deficiency
Long philtrum, Nausea and vomiting, Feeding difficulties in infancy, Short nose, Abnormal pattern... ORPHA:833
Amish Lethal Microcephaly
Ventriculomegaly, Cleft soft palate, Optic atrophy, Death in infancy, Micrognathia, Limitation of... ORPHA:99742
Ohdo Syndrome
Long philtrum, Wide nasal bridge, Widely spaced teeth, Micrognathia, Feeding difficulties in infa... OMIM:249620
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory insufficiency, Multiple joint contractures, Microdontia, Micrognathia, Pulmonary hypo... ORPHA:536467
Pitt-Hopkins-Like Syndrome 2
Gastroesophageal reflux, Wide mouth, Protruding tongue, Hyperventilation, Constipation, Feeding d... OMIM:614325
Short Stature-Wormian Bones-Dextrocardia Syndrome
Camptodactyly of finger, Abnormality of the philtrum, High palate, Wide nasal bridge, Delayed eru... ORPHA:2863
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Anal stenosis, Gastroesophageal reflux, High palate, Long philtrum, Micrognathia, Pulmonary hypop... OMIM:614080
Combined Oxidative Phosphorylation Deficiency 25
Decreased response to growth hormone stimulation test, Long philtrum, Wide nasal bridge, Short no... OMIM:616430
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Respiratory insufficiency, Abnormal lower lip morphology, Ventricular septal defect, Micrognathia... ORPHA:1166
Neu-Laxova Syndrome
Retrognathia, Abnormality of the philtrum, Flexion contracture, Depressed nasal ridge, Ventriculo... ORPHA:2671
Pyruvate Dehydrogenase E1-Alpha Deficiency
Long philtrum, Wide nasal bridge, Ventriculomegaly, Apneic episodes precipitated by illness, fati... OMIM:312170
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Long philtrum, Micrognathia, Hydrocephalus, Radioulnar synostosis, Short nose, Short columella, D... ORPHA:171839
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
High palate, Long philtrum, Abnormal bone ossification, Micrognathia, Increased bone mineral dens... ORPHA:163649
Lissencephaly Syndrome, Norman-Roberts Type
Wide nose, Patent foramen ovale, Abnormal retinal morphology, Wide nasal bridge, Respiratory dist... ORPHA:89844
Chromosome 22Q11.2 Duplication Syndrome
Micrognathia, Velopharyngeal insufficiency, High palate, Depressed nasal ridge OMIM:608363
Cerebrooculofacioskeletal Syndrome 3
Cleft palate, Micrognathia, Ventriculomegaly, Arthrogryposis multiplex congenita OMIM:616570
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Dyspnea, Cough, Respiratory failure, Respiratory failure requiring assisted... ORPHA:90117
Atelosteogenesis Type I
Absent or minimally ossified vertebral bodies, Rhizomelia, Micrognathia, Abnormal pancreatic duct... ORPHA:1190
Acromegaloid Facial Appearance Syndrome
Short 5th metacarpal, Deep philtrum, Micrognathia, Joint hypermobility, Bulbous nose, Thick nasal... OMIM:102150
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea, Neonatal death, Pulmonary hypoplasia OMIM:615228
Radio-Renal Syndrome
Retrognathia, Convex nasal ridge, Hypoplasia of the radius, Micrognathia, Respiratory distress, P... ORPHA:3015
Hyperekplexia 4
Respiratory failure, High palate OMIM:618011
Multiple Epiphyseal Dysplasia, Lowry Type
Knee flexion contracture, Rhizomelia, Fixed elbow flexion, Micrognathia, Broad nasal tip, Cleft h... ORPHA:166016
Fatty Acyl-Coa Reductase 1 Deficiency
Long philtrum, Short nose, Thin upper lip vermilion, Depressed nasal bridge, Smooth philtrum, Dan... ORPHA:438178
Congenital Tracheomalacia
Respiratory insufficiency, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hypoplasia, ... ORPHA:95430
Orofaciodigital Syndrome Type 5
Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p... ORPHA:2919
Intermediate Nemaline Myopathy
Flexion contracture, Long philtrum, Multiple prenatal fractures, Dysphagia, Respiratory failure, ... ORPHA:171433
Congenital Myopathy 17
Respiratory insufficiency, Dental malocclusion, Respiratory tract infection, Mandibular prognathi... OMIM:618975
Hamel Cerebro-Palato-Cardiac Syndrome
Wide nasal bridge, Death in infancy, Micrognathia, Atrial septal defect, Narrow mouth, Cleft pala... ORPHA:93946
Atelosteogenesis Type Ii
Micrognathia, Elbow flexion contracture, Camptodactyly, Pulmonary hypoplasia, Short femur, Limb u... ORPHA:56304
Linear Skin Defects With Multiple Congenital Anomalies 2
Pulmonary arterial hypertension, Ventricular hypertrophy, Long philtrum, Atrial septal defect, Sh... OMIM:300887
Van Der Woude Syndrome
Cleft upper lip, Lip pit, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Alg9-Cdg
Convex nasal ridge, Diarrhea, Pericardial effusion, Micrognathia, Abnormal left ventricular outfl... ORPHA:79328
Tetrasomy 12P
Thick upper lip vermilion, Long philtrum, Delayed eruption of teeth, Anal atresia, Short nose, Ev... ORPHA:884
Skraban-Deardorff Syndrome
Thick upper lip vermilion, Ventriculomegaly, Ventricular septal defect, Widely spaced teeth, Micr... OMIM:617616
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Cardiocranial Syndrome, Pfeiffer Type
Sagittal craniosynostosis, Plantar flexion contracture, Wide nasal bridge, Episodic tachypnea, Te... ORPHA:2872
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, High palate, Hypoplasia of the radius, Micrognathia, Abnormal l... ORPHA:958
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Vomiting, Feeding difficulties in infancy, Pyloric stenosis... OMIM:300048
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent foramen ovale, Respiratory failure, Flexion contracture, Pulmonary hypoplasia, Multiple pr... OMIM:616867
Severe X-Linked Mitochondrial Encephalomyopathy
Tongue fasciculations, Respiratory insufficiency, Respiratory distress, Feeding difficulties in i... ORPHA:238329
Pycnodysostosis
Convex nasal ridge, Micrognathia, Increased bone mineral density, Increased susceptibility to fra... ORPHA:763
Robinow Syndrome, Autosomal Dominant 2
Dental malocclusion, Cleft soft palate, Long philtrum, Wide mouth, Calvarial osteosclerosis, Micr... OMIM:616331
Scedosporiosis
Bronchitis, Endocarditis, Septic arthritis, Osteomyelitis, Pleural empyema, Pleuritis, Abnormal j... ORPHA:449280
Crisponi Syndrome
Respiratory insufficiency, Wide nose, Camptodactyly of finger, Flexion contracture, High palate, ... ORPHA:1545
Martsolf Syndrome 1
Short toe, Cardiomyopathy, Enlarged sylvian cistern, High palate, Long philtrum, Short metacarpal... OMIM:212720
Angelman Syndrome
Gastroesophageal reflux, Mandibular prognathia, Vomiting, Gastrostomy tube feeding in infancy, Wi... ORPHA:72
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Pierre-Robin sequence, Abnormal cardiac septum morphology, Micrognathia, Respiratory distress, Tr... OMIM:217980
Diabetes Insipidus, Neurohypophyseal
Wide nose, Long philtrum, Short nose, Central diabetes insipidus, Osteopenia OMIM:125700
Thanatophoric Dysplasia
Respiratory insufficiency, Ventriculomegaly, Hydrocephalus, Pulmonary hypoplasia, Atrial septal d... ORPHA:2655
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Underdeveloped nasal alae, High palate, Wide nasal bridge, Micrognathia, Joint contracture of the... OMIM:248910
Hemifacial Atrophy, Progressive
Dental malocclusion, Short mandibular rami, Tongue atrophy, Delayed eruption of teeth OMIM:141300
Baraitser-Winter Syndrome 1
Retrognathia, Cleft upper lip, Long philtrum, Wide nasal bridge, Wide mouth, Ventriculomegaly, Bi... OMIM:243310
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Contractures of the large joints, Ventricular septal defect, Optic atro... ORPHA:3078
Congenital Heart Defects And Skeletal Malformations Syndrome
Narrow maxilla, High palate, Ventricular septal defect, Repeated pneumothoraces, Chronic constipa... OMIM:617602
Cerebrofacioarticular Syndrome
Irregular dentition, Gastrostomy tube feeding in infancy, Bilateral choanal atresia/stenosis, Wid... ORPHA:314679
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Wide nasal bridge, Cleft palate, Feeding difficulties, Abnormal rectum morphology, Short toe, Hyd... OMIM:239300
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Pulmonary hypoplasia, Neonatal respiratory distress, Neonatal de... OMIM:619003
Crouzon Syndrome
Sagittal craniosynostosis, Mandibular prognathia, High palate, Optic atrophy, Coronal craniosynos... OMIM:123500
Degcags Syndrome
Ventriculomegaly, Micrognathia, Smooth philtrum, Feeding difficulties, Pneumonia, Intestinal atre... OMIM:619488
X-Linked Intellectual Disability, Porteous Type
Hypoplasia of the maxilla, Bulbous nose, Mandibular prognathia, Short philtrum ORPHA:93945
Rhizomelic Chondrodysplasia Punctata, Type 2
Flexion contracture, High palate, Rhizomelia, Wide nasal bridge, Micrognathia, Epiphyseal stippli... OMIM:222765
Bronchopulmonary Dysplasia
Central apnea, Hyperoxemia, Pulmonary sequestration, Tracheobronchomalacia, Abnormal respiratory ... ORPHA:70589
Keipert Syndrome
Hypoplasia of the maxilla, Depressed nasal bridge, Short hallux, Short distal phalanx of finger, ... ORPHA:2662
Achondrogenesis, Type Ib
Respiratory insufficiency, Absent or minimally ossified vertebral bodies, Short ribs, Abdominal d... OMIM:600972
Distal Trisomy 18Q
Camptodactyly of finger, High palate, Micrognathia, Abnormality of dental morphology, Short nose,... ORPHA:1716
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Rod-cone dystrophy, Wide nasal bridge, Retinal atrophy, Apnea, Respira... OMIM:610127
Distal Xq28 Microduplication Syndrome
Patent foramen ovale, High palate, Short lingual frenulum, Thick lower lip vermilion, Asthma, Epi... ORPHA:293939
Lethal Omphalocele-Cleft Palate Syndrome
Cleft palate, Bifid uvula, Cleft soft palate, Unilateral cleft lip ORPHA:2736
Carey-Fineman-Ziter Syndrome 2
Underdeveloped nasal alae, Long philtrum, Abnormal nasal septum morphology, Micrognathia, Velopha... OMIM:619941
Joubert Syndrome 1
Neonatal breathing dysregulation, Optic disc pallor, Episodic tachypnea, Retinal dystrophy, Macro... OMIM:213300
Asbestos Intoxication
Myocardial fibrosis, Oxygen desaturation on exertion, Pleural thickening, Decreased DLCO, Nonprod... ORPHA:2302
Vitamin K Antagonist Embryofetopathy
Respiratory insufficiency, Optic atrophy, Hydrocephalus, Epiphyseal stippling, Macroglossia, Shor... ORPHA:1914
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency OMIM:617732
Trehalase Deficiency
Vomiting, Diarrhea, Malabsorption, Abdominal pain, Abdominal distention ORPHA:103909
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Camptodactyly of finger, Short toe, Abnormal mandible morphology, Short 4th metacarpal, Hypodonti... ORPHA:3201
Apert Syndrome
Respiratory insufficiency, Aplasia/Hypoplasia of the thumb, Convex nasal ridge, Narrow palate, Ma... ORPHA:87
Stickler Syndrome, Type Ii
Pierre-Robin sequence, Micrognathia, Bifid uvula, Joint hypermobility, Depressed nasal bridge, An... OMIM:604841
Czeizel-Losonci Syndrome
High palate, Micrognathia, Hydrocephalus, Pulmonary hypoplasia, Tracheoesophageal fistula, Dextro... ORPHA:2437
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Conical tooth, Cleft upper lip, Nasogastric tube feeding in infancy, Ventricular septal defect, W... OMIM:106260
Distal Limb Deficiencies-Micrognathia Syndrome
Aplasia/Hypoplasia of the thumb, High palate, Microdontia, Microretrognathia, Hypoplasia of the m... ORPHA:1307
Congenital Hypothyroidism
Abnormal pericardium morphology, Depressed nasal ridge, Optic atrophy, Anterior hypopituitarism, ... ORPHA:442
Moebius Syndrome
Abnormal nasopharynx morphology, High palate, Aplasia/Hypoplasia involving the metacarpal bones, ... OMIM:157900
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Short tibia, Natal tooth, Absent nasal bridge, Short ribs, Micrognathia, Pulm... OMIM:617925
Gm1-Gangliosidosis, Type Ii
Thin bony cortex, Ventriculomegaly, Optic atrophy, Hypoplastic vertebral bodies, Protruding tongu... OMIM:230600
Meckel Syndrome 14
Retrognathia, Pneumothorax, Micrognathia, Pulmonary hypoplasia, Microretrognathia, Abdominal dist... OMIM:619879
17P13.3 Microduplication Syndrome
Wide nose, High palate, Ventriculomegaly, Short nose, Narrow mouth ORPHA:217385
Mohr Syndrome
Lobulated tongue, Bifid tongue, High palate, Tongue nodules, Micrognathia, Hydrocephalus, Median ... OMIM:252100
Birk-Barel Syndrome
High palate, Bifid uvula, Short philtrum, Submucous cleft soft palate, Tented upper lip vermilion OMIM:612292
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatic failure, High palate, Ventriculomegaly, Ventricular septal defect, Micrognathia, Pulmonar... ORPHA:1655
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Patent foramen ovale, Mandibular prognathia, High palate, Ventricular septal defect, Wide nasal b... ORPHA:369891
Peho Syndrome
Flexion contracture, Ventriculomegaly, Optic atrophy, Hydrocephalus, Abnormal upper lip morpholog... ORPHA:2836
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Ventricular hypertrophy, Patent foramen ovale, Long philtrum, Rhizomelia, Death in infancy, Hypop... OMIM:602613
Ciliary Dyskinesia, Primary, 5
Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... OMIM:608647
Fetal Alcohol Syndrome
Non-midline cleft lip, Microdontia, Micrognathia, Atrial septal defect, Short nose, Thin upper li... ORPHA:1915
Acromicric Dysplasia
Long philtrum, Short metacarpal, Small hand, Thick lower lip vermilion, Joint stiffness, Short no... ORPHA:969
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Nasogastric tube feeding in infancy, High palate, Poor suck, Ventilator dependence with inability... ORPHA:254864
Primary Effusion Lymphoma
Pericardial effusion, Abdominal pain, Abdominal distention, Pleural effusion, Dyspnea ORPHA:48686
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Alveolar process hypoplasia, Delayed eruption of teeth, Hypodontia, Abnormality of dental morphol... ORPHA:2972
Autosomal Dominant Omodysplasia
Rhizomelia, Long philtrum, Short 1st metacarpal, Micrognathia, Short nose, Depressed nasal bridge... ORPHA:93328
1Q41Q42 Microdeletion Syndrome
Underdeveloped nasal alae, Submucous cleft hard palate, Pulmonary hypoplasia, Depressed nasal bri... ORPHA:250999
Fibrochondrogenesis 1
Patent foramen ovale, Long philtrum, Short foot, Short ribs, Rhizomelia, Small hand, Joint contra... OMIM:228520
Autosomal Recessive Multiple Pterygium Syndrome
Camptodactyly of finger, High palate, Long philtrum, Micrognathia, Abnormal aortic valve morpholo... ORPHA:2990
Microphthalmia, Syndromic 9
Respiratory insufficiency, Agenesis of pulmonary vessels, Wide nasal bridge, Bilateral lung agene... OMIM:601186
Mosaic Trisomy 14
Camptodactyly of finger, High palate, Wide nasal bridge, Ectopic anus, Wide mouth, Micrognathia, ... ORPHA:1703
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Hydrocephalus, Wide nasal bridge OMIM:618302
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Retrognathia, High palate, Long philtrum, Wide nasal bridge, Ventricular septal defect, Micrognat... OMIM:617061
Non-Distal Trisomy 13Q
High palate, Long philtrum, Micrognathia, Short nose, Everted lower lip vermilion, Cryptorchidism... ORPHA:1702
Adult-Onset Nemaline Myopathy
Neuromuscular dysphagia, Flexion contracture, High palate, Micrognathia, Dilated cardiomyopathy, ... ORPHA:171442
Pfeiffer Syndrome Type 2
High palate, Short foot, Small hand, Aqueductal stenosis, Hydrocephalus, Anal atresia, Tracheomal... ORPHA:93259
Faciocardiomelic Dysplasia, Lethal
Retrognathia, Short 5th finger, Hypoplasia of the radius, Micrognathia, Hypoplasia of the ulna, N... OMIM:227270
16P12.1P12.3 Triplication Syndrome
Retrognathia, Decreased response to growth hormone stimulation test, Long philtrum, Wide mouth, S... ORPHA:485405
Kleefstra Syndrome
Ventriculomegaly, Delayed eruption of teeth, Supernumerary nipple, Everted lower lip vermilion, P... ORPHA:261494
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Anterior hypopituitarism, Micrognathia, Abnormal palate morphology, C... ORPHA:2022
Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory insufficiency, Flexion contracture, Multiple joint contractures, Micrognathia, Elbow ... ORPHA:536471
Interstitial Pneumonitis, Desquamative, Familial
Cor pulmonale, Desquamative interstitial pneumonitis, Respiratory distress, Recurrent upper respi... OMIM:263000
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Underdeveloped nasal alae, Depressed nasal ridge, Wide nasal bridge, Deep philtrum, Micrognathia,... ORPHA:77300
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Underdeveloped nasal alae, Truncus arteriosus, Ventricular septal defect, Micrognathia, Abnormal ... ORPHA:2516
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Left ventricular hypertrophy, Pulmonary hypoplasia, Respiratory distress, Fe... OMIM:616733
Juvenile Sialidosis Type 2
Optic atrophy, Protruding tongue, Abnormal heart morphology, Dysphagia, Gingival overgrowth, Cher... ORPHA:93399
Carey-Fineman-Ziter Syndrome 1
Respiratory insufficiency, Flexion contracture, Ventriculomegaly, Abnormal cardiac septum morphol... OMIM:254940
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Gastroesophageal reflux, Distal arthrogryposis, High palate, Ventriculomegaly, Optic atrophy, Dee... OMIM:619833
Codas Syndrome
Ventricular septal defect, Short metacarpal, Delayed eruption of teeth, Abnormality of dental mor... ORPHA:1458
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Aqueductal stenosis, Micrognathia, Pulmonary hypoplasia, Lower limb undergrowth, Intestinal malro... ORPHA:3035
Cohen Syndrome
Aplasia/Hypoplasia of the tongue, Ventricular septal defect, Optic atrophy, High, narrow palate, ... ORPHA:193
Aarskog-Scott Syndrome
Cleft upper lip, Short 5th finger, Short foot, Wide nasal bridge, Hyperextensibility of the finge... OMIM:305400
Schneckenbecken Dysplasia
Advanced ossification of carpal bones, Short ribs, Short nose, Limb undergrowth, Stillbirth, Adva... OMIM:269250
Oculodentodigital Dysplasia, Autosomal Recessive
Underdeveloped nasal alae, Dental malocclusion, Long philtrum, Macrodontia of permanent maxillary... OMIM:257850
Clark-Baraitser Syndrome
High palate, Long philtrum, Wide mouth, Short philtrum, Short nose, Thin upper lip vermilion, Dow... OMIM:617752
Tetraploidy
Convex nasal ridge, Radial club hand, Aplasia/Hypoplasia of the lungs, Micrognathia, Short philtr... ORPHA:3305
Camptodactyly Syndrome, Guadalajara Type 1
Camptodactyly of finger, Dental malocclusion, Short toe, Mandibular prognathia, High palate, Abno... ORPHA:1327
Lethal Faciocardiomelic Dysplasia
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp... ORPHA:1972
Cornelia De Lange Syndrome 2
Gastroesophageal reflux, High palate, Small hand, Ventriculomegaly, Limited elbow movement, Micro... OMIM:300590
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Underdeveloped nasal alae, Abnormal oral cavity morphology, Wide nasal bridge, Micrognathia, Hydr... ORPHA:1516
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Long philtrum, Wide nasal bridge, Deep philtrum, Microretrognathia, Short nose, Downturned corner... OMIM:618571
Pde4D Haploinsufficiency Syndrome
Short toe, Short metatarsal, Mandibular prognathia, Prominent nose, Long philtrum, Upper limb und... ORPHA:439822
Myopathy, Centronuclear, 5
Respiratory insufficiency, Retrognathia, High palate, Hip contracture, Micrognathia, Bifid uvula,... OMIM:615959
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Absent nares, Aplasia/Hypoplasia involving the nose, Mandibular aplasia, Respiratory distress, Na... ORPHA:990
Arthrogryposis Multiplex Congenita 6
Respiratory failure, Neonatal death, Death in childhood, Death in infancy OMIM:619334
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventriculomegaly, Ventricular septal defect, Bicuspid aortic valve, Shor... ORPHA:284169
Distal Trisomy 5Q
Absent thumb, Long philtrum, Ventricular septal defect, Aplasia/Hypoplasia of the gallbladder, Hy... ORPHA:96097
Auriculocondylar Syndrome 3
Retrognathia, Micrognathia, Bifid uvula, Glossoptosis OMIM:615706
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Restricted large joint movement, Micrognathia, Abnormal respiratory system physiology, Delayed os... ORPHA:93346
German Syndrome
Camptodactyly of finger, High palate, Wide nasal bridge, Abnormal cardiac septum morphology, Micr... ORPHA:2077
Stickler Syndrome, Type I
Pierre-Robin sequence, Retinal hole, Micrognathia, Mitral valve prolapse, Bifid uvula, Submucous ... OMIM:108300
Congenital Myopathy 2A, Typical, Autosomal Dominant
Respiratory insufficiency, Retrognathia, High palate, Feeding difficulties in infancy, Dilated ca... OMIM:161800
Cheilitis Glandularis
Thick lower lip vermilion, Abnormal salivary gland morphology ORPHA:1221
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Cleft upper lip, Flexion contracture, Vertebral hypoplasia, Abnormal cardiac septum morphology, S... OMIM:308050
X-Linked Centronuclear Myopathy
High palate, Recurrent respiratory infections, Poor suck, Feeding difficulties in infancy, Respir... ORPHA:596
Ramos-Arroyo Syndrome
Choanal stenosis, Choriocapillaris atrophy, Long philtrum, Aganglionic megacolon, Feeding difficu... ORPHA:1051
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Depressed nasal ridge, Wide mouth, Short foot, Rhizomelia, Micrognathia, Death in infancy, Hydroc... ORPHA:163966
Prader-Willi Syndrome Due To Translocation
Nasogastric tube feeding in infancy, Lateral ventricle dilatation, Micrognathia, Feeding difficul... ORPHA:177907
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Ventriculomegaly, Wide nasal bridge, Bifid uvula, Smooth philtrum, Cleft palate, Feeding difficul... OMIM:300968
Musculocontractural Ehlers-Danlos Syndrome
Pneumothorax, High palate, Malrotation of small bowel, Long philtrum, Ventriculomegaly, Generaliz... ORPHA:2953
Rhizomelic Chondrodysplasia Punctata, Type 1
Respiratory insufficiency, Flexion contracture, Rhizomelia, Micrognathia, Calcific stippling of i... OMIM:215100
Basel-Vanagaite-Smirin-Yosef Syndrome
Pulmonary arterial hypertension, Retrognathia, Gastroesophageal reflux, High palate, Ventriculome... OMIM:616449
Achondroplasia
Choanal stenosis, Rhizomelia, Short femoral neck, Short ribs, Death in infancy, Generalized joint... OMIM:100800
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Aplasia/Hypoplasia of the lungs, Hydro... ORPHA:2635
Jackson-Weiss Syndrome
Convex nasal ridge, Mandibular prognathia, Hypoplasia of the maxilla, Abnormal palate morphology,... ORPHA:1540
Bilateral Perisylvian Polymicrogyria
Gastroesophageal reflux, Distal arthrogryposis, Flexion contracture, Aspiration, Micrognathia, Ps... ORPHA:98889
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Knee flexion contracture, Bronchiectasis, Optic atrophy, Micrognathia, Pulmonary hypoplasia, Inte... OMIM:619708
Meier-Gorlin Syndrome 4
Patellar aplasia, Thick lower lip vermilion, Micrognathia, Emphysema, Hypoplasia of the maxilla, ... OMIM:613804
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Retrognathia, High palate, Wide nasal bridge, Joint contracture, Atrial septal defect, Short nose... OMIM:618005
Greenberg Dysplasia
Absent or minimally ossified vertebral bodies, Micrognathia, Tetraphocomelia, Epiphyseal stipplin... OMIM:215140
Chromosome 6Q24-Q25 Deletion Syndrome
High palate, Long philtrum, Small hand, Lateral ventricle dilatation, Right ventricular dilatatio... OMIM:612863
Malan Syndrome
Retrognathia, Mandibular prognathia, Ventriculomegaly, Advanced eruption of teeth, Hyperplasia of... OMIM:614753
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Retrognathia, High palate, Ventriculomegaly, Wide nasal bridge, Thick lower lip vermilion, Hypodo... OMIM:618342
Synaptic Congenital Myasthenic Syndromes
Respiratory insufficiency, Pulmonary arterial hypertension, Hypoventilation, High palate, Exertio... ORPHA:98915
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia, Intestinal malrotation, Testicular atrophy, Decreased skull ossification, A... OMIM:601163
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Long philtrum, Ventriculomegaly, Micrognathia, Radioulnar synost... ORPHA:1988
Lethal Congenital Contracture Syndrome 1
Micrognathia, Neonatal death, Pulmonary hypoplasia, Arthrogryposis multiplex congenita OMIM:253310
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Micrognathia, Abnormal cortical bone morphology, Pulmonary hypoplasia, Limit... ORPHA:1486
Desmosterolosis
Retrognathia, Ventriculomegaly, Micrognathia, Increased bone mineral density, Bifid uvula, Submuc... ORPHA:35107
Peho Syndrome
Retrognathia, Optic atrophy, Feeding difficulties in infancy, Short nose, Tented upper lip vermil... OMIM:260565
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Incisor macrodontia, Underdeveloped nasal alae, High palate, Wide nasal bridge, Feeding difficult... ORPHA:438216
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Respiratory failure, Anal atresia, Stillbirth OMIM:276950
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Myofiber disarray, High palate, Ventriculomegaly, Death in infancy, Irregular respiration, Respir... OMIM:604377
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Nasogastric tube feeding in infancy, Abnormality of upper lip vermillion, Convex nasal ridge, Mic... ORPHA:251028
Mosaic Trisomy 16
Nasogastric tube feeding in infancy, Gastrostomy tube feeding in infancy, Short femoral neck, Wid... ORPHA:1708
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, High palate, Short foot, Flexion contracture, Decreased testicular size, M... OMIM:300534
Contractures-Developmental Delay-Pierre Robin Syndrome
Underdeveloped nasal alae, Wrist flexion contracture, High, narrow palate, Short thumb, Micrognat... ORPHA:436003
Autosomal Recessive Omodysplasia
Long philtrum, Rhizomelia, Micrognathia, Micromelia, Short nose, Hypoplastic distal humeri, Depre... ORPHA:93329
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Poor suck, Death in infancy, Apnea, Hypertrophic cardiomyopathy, Respi... OMIM:616277
Athyreosis
Constipation, Feeding difficulties, Macroglossia, Abdominal distention ORPHA:95713
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Crowded maxillary incisors ORPHA:397973
Esophageal Atresia
Feeding difficulties in infancy, Pulmonary hypoplasia, Dysphagia, Cleft palate, Duodenal atresia,... ORPHA:1199
Desmosterolosis
Rhizomelia, Ventriculomegaly, Joint contracture of the hand, Micrognathia, Gingival fibromatosis,... OMIM:602398
Ogden Syndrome
Thick upper lip vermilion, Everted upper lip vermilion, Wide nasal bridge, Ventriculomegaly, Diar... OMIM:300855
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome
Pulmonary arterial hypertension, Cleft soft palate, Wide nasal bridge, Micrognathia, Hypoxemia, S... ORPHA:2282
Fetal Valproate Spectrum Disorder
Long philtrum, Depressed nasal ridge, Short nose, Downturned corners of mouth, Narrow mouth, Thin... ORPHA:1906
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Congenital Fiber-Type Disproportion Myopathy
Nasogastric tube feeding in infancy, Flexion contracture, Micrognathia, Elbow flexion contracture... ORPHA:2020
Cornelia De Lange Syndrome 5
Retrognathia, Gastroesophageal reflux, High palate, Long philtrum, Small hand, Widely spaced teet... OMIM:300882
Isolated Childhood Apraxia Of Speech
Submucous cleft hard palate, High, narrow palate ORPHA:209908
Joubert Syndrome 18
Retrognathia, Lobulated tongue, Ventricular septal defect, Camptodactyly, Joint laxity, Cleft palate OMIM:614815
Burn-Mckeown Syndrome
Underdeveloped nasal alae, Cleft upper lip, Mandibular prognathia, Bilateral choanal atresia/sten... OMIM:608572
Dysostosis, Stanescu Type
Convex nasal ridge, Massively thickened long bone cortices, Abnormal nasal morphology, Increased ... ORPHA:1798
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Gastroesophageal reflux, Long philtrum, Wide nasal bridge, Short femoral neck, Ventriculomegaly, ... OMIM:614701
Hurler Syndrome
Flexion contracture, Wide nasal bridge, Microdontia, Hypoplasia of the femoral head, Cranial hype... OMIM:607014
Intellectual Disability, Birk-Barel Type
Incisor macrodontia, Congenital finger flexion contractures, Foot joint contracture, Micrognathia... ORPHA:166108
Orofaciodigital Syndrome Xv
Lobulated tongue, Ventriculomegaly, Wide nasal bridge, Midline notch of upper alveolar ridge, Ant... OMIM:617127
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy