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.

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
Torus Palatinus And Torus Mandibularis
Abnormality of the mouth, Torus palatinus OMIM:189700
Cleft Soft Palate
Cleft soft palate OMIM:119570
Uvula, Bifid
Bifid uvula OMIM:192100
Palatopharyngeal Incompetence
Cleft palate, Velopharyngeal insufficiency OMIM:167500
Pierre Robin Syndrome
Pierre-Robin sequence, Feeding difficulties in infancy, Micrognathia, Upper airway obstruction, G... OMIM:261800
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Van Der Woude Syndrome 2
Anodontia, Cleft upper lip, Cleft palate OMIM:606713
Isolated Congenital Hypoglossia/Aglossia
Nasogastric tube feeding in infancy, Temporomandibular joint ankylosis, Gastrostomy tube feeding ... ORPHA:141152
Pallister-Hall-Like Syndrome
Short ribs, Anterior hypopituitarism, Micrognathia, Microglossia, Abnormal heart morphology, Micr... OMIM:241800
Bifid Uvula
Submucous cleft soft palate, Bifid uvula, Cleft lip ORPHA:99771
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Gingival fibromatosis, Respiratory failure, Micrognathia, Dyspnea, Mandibu... ORPHA:1832
Isolated Pierre Robin Syndrome
Neonatal respiratory distress, Upper airway obstruction, Glossoptosis, Cleft palate ORPHA:718
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Ventriculomegaly, Micrognathia, Knee flexion contracture, Unilateral wrist flexion contracture, A... OMIM:616531
Bowen-Conradi Syndrome
Abnormal lung lobation, Feeding difficulties in infancy, Joint stiffness, Cryptorchidism, Ventric... ORPHA:1270
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
High palate, Pneumonia, Chronic bronchitis, Depressed nasal bridge, Retrognathia, Anteverted nare... OMIM:614069
Nemaline Myopathy 9
High palate, Micrognathia, Arthrogryposis multiplex congenita, Respiratory insufficiency, Cleft p... OMIM:615731
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Cortical Blindness, Retardation, And Postaxial Polydactyly
Microretrognathia, Long philtrum, Short nose OMIM:218010
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Congenital Laryngomalacia
Cleft palate, Non-midline cleft lip ORPHA:2373
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
17Q21.31 Microduplication Syndrome
Short philtrum, High palate, Micrognathia, Malar flattening, Abnormality of the dentition, Anteve... ORPHA:217340
Microphthalmia, Syndromic 12
Broad nasal tip, Cryptorchidism, Wide nasal bridge, Micrognathia, Ventricular septal defect, Retr... OMIM:615524
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Mesomelia, Retrognathia, Abnormal lung lobation, Camptodactyly of finger, Thin vermilion border, ... ORPHA:2631
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Micrognathia, Thin upper lip vermilion, Anteverted nares, Cleft palate, Short nose ORPHA:2015
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Narrow mouth, Recurrent pneumonia, Abnormal palate morphology, Gastroesophageal reflux, Ventricul... ORPHA:1495
Glaucoma-Sleep Apnea Syndrome
Respiratory insufficiency, Sleep apnea ORPHA:2085
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Micrognathia, Short distal phalanx of finger, Glossoptosis, Cleft palate OMIM:311895
Geographic And Fissured Tongue
Furrowed tongue, Geographic tongue OMIM:137400
Achondrogenesis Type 1A
Long philtrum, Abnormal enchondral ossification, Recurrent fractures, Aplasia/Hypoplasia of the l... ORPHA:93299
Tonne-Kalscheuer Syndrome
Narrow mouth, Velopharyngeal insufficiency, Cryptorchidism, Wide nasal bridge, Feeding difficulti... OMIM:300978
Atelosteogenesis, Type Ii
Micrognathia, Micromelia, Depressed nasal bridge, Malar flattening, Short middle phalanx of finge... OMIM:256050
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Respiratory failure, Tongue fasciculations, Death in childhood OMIM:253300
Dyssegmental Dysplasia, Silverman-Handmaker Type
Narrow mouth, Cryptorchidism, Wide nasal bridge, Micrognathia, Malar flattening, Neonatal death, ... OMIM:224410
Cleft Velum
Poor suck, Velopharyngeal insufficiency, Cleft soft palate, Nasal regurgitation, Oral-pharyngeal ... ORPHA:99772
Catel-Manzke Syndrome
Joint stiffness, Atrial septal defect, Ventriculomegaly, Micrognathia, Malar flattening, Glossopt... ORPHA:1388
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Respiratory failure OMIM:208081
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
High palate, Distal arthrogryposis, Flexion contracture, Elbow flexion contracture, Ankle flexion... OMIM:617468
Peroxisome Biogenesis Disorder 10A (Zellweger)
High palate, Epiphyseal stippling, Feeding difficulties, Micrognathia, Death in infancy, Prominen... OMIM:614882
Congenital Disorder Of Glycosylation, Type Iu
High palate, Feeding difficulties, Micrognathia, Respiratory distress, Neonatal respiratory distr... OMIM:615042
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Bifid uvula, Cleft palate OMIM:258320
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Myasthenic Syndrome, Congenital, 8
High palate, Respiratory insufficiency OMIM:615120
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Perching Syndrome
High palate, Flexion contracture, Feeding difficulties, Rod-cone dystrophy, Depressed nasal bridg... OMIM:617055
Robin Sequence-Oligodactyly Syndrome
Hand oligodactyly, Micrognathia, Glossoptosis, Abnormality of the dentition, Cleft palate ORPHA:3104
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Cleft palate, Non-midline cleft lip ORPHA:1074
Auriculocondylar Syndrome 2
Apnea, Narrow mouth, Snoring, Micrognathia, Dental crowding, Glossoptosis, Ankylosis, Mandibular ... OMIM:614669
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
14Q11.2 Microdeletion Syndrome
Narrow mouth, High palate, Long philtrum, Everted lower lip vermilion, Deep philtrum, Exaggerated... ORPHA:261120
Leukodystrophy, Hypomyelinating, 17
Anteverted nares, Flexion contracture, Widely spaced teeth, Feeding difficulties, Respiratory dis... OMIM:618006
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Osteopenia, Multiple prenatal fractures, Short ribs, Unilateral cleft lip, H... OMIM:616897
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Congenital Arthrogryposis With Anterior Horn Cell Disease
High palate, Cryptorchidism, Respiratory failure, Feeding difficulties, Micrognathia, Respiratory... OMIM:611890
Maxillonasal Dysplasia
Open bite, Depressed nasal ridge, Short columella, Aplasia/Hypoplasia of the distal phalanges of ... ORPHA:1248
Stickler Syndrome Type 1
Abnormal vitreous humor morphology, Long philtrum, Retinal detachment, Osteoarthritis, Hypoplasia... ORPHA:90653
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure OMIM:301021
Agnathia-Otocephaly Complex
Narrow mouth, Aglossia, Tracheomalacia, Situs inversus totalis, Micrognathia, Mandibular aplasia,... OMIM:202650
Orofacial Cleft 13
Cleft soft palate, Oligodontia OMIM:613857
Periodontal Ehlers-Danlos Syndrome
Premature loss of primary teeth, Agenesis of permanent teeth, Periodontitis, Microdontia, Microgn... ORPHA:75392
Myasthenic Syndrome, Congenital, 19
High palate, Gastroesophageal reflux, Distal joint laxity, Feeding difficulties, Micrognathia, Re... OMIM:616720
Primary Pulmonary Hypoplasia
Restrictive ventilatory defect, Hypoxemia, Patellar hypoplasia, Asthma, Abnormal breath sound, Ta... ORPHA:2257
Peho-Like Syndrome
Open mouth, Feeding difficulties, Ventriculomegaly, Retrognathia, Optic atrophy, Short nose OMIM:617507
Tongue, Pigmented Fungiform Papillae Of
Abnormality of the tongue OMIM:275250
Teebi Hypertelorism Syndrome 1
Anteverted nares, Long philtrum, Coronal craniosynostosis, Atrial septal defect, Sagittal cranios... OMIM:145420
Ectrodactyly-Cleft Palate Syndrome
Cleft palate OMIM:129830
Diaphanospondylodysostosis
Missing ribs, Tracheomalacia, Depressed nasal ridge, Protuberant abdomen, Micrognathia, Depressed... OMIM:608022
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Death in infancy, Respiratory failure, Respiratory insufficiency, Central apnea OMIM:611722
Non-Distal Trisomy 10Q
High palate, Cryptorchidism, Everted lower lip vermilion, Convex nasal ridge, Micrognathia, Depre... ORPHA:1695
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Flexion contracture, Respiratory failure, Feeding difficulties, Ventriculomegaly, Micrognathia, R... OMIM:618291
20P12.3 Microdeletion Syndrome
Narrow mouth, Long philtrum, Atrial septal defect, Wide nasal bridge, Ventriculomegaly, Hypoplasi... ORPHA:261295
Hypoglossia With Situs Inversus
Narrow mouth, High palate, Feeding difficulties in infancy, Hypodontia, Situs inversus totalis, M... OMIM:612776
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:2521
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
High palate, Restrictive ventilatory defect, Flexion contracture, Wide nasal bridge, Respiratory ... OMIM:218000
Achondrogenesis Type 2
Pierre-Robin sequence, Abnormal vitreous humor morphology, Delayed proximal femoral epiphyseal os... ORPHA:93296
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Poor suck, Chorioretinal coloboma, Apneic episodes in infancy, Episodic tachypnea, Thick nasal al... ORPHA:163961
Fetal Akinesia Deformation Sequence
Camptodactyly of finger, Multiple joint contractures, Intestinal hypoplasia, Cryptorchidism, Micr... ORPHA:994
Mucopolysaccharidosis, Type Ix
Submucous cleft hard palate, Bifid uvula OMIM:601492
Gaucher Disease, Perinatal Lethal
Narrow mouth, Pulmonary hypoplasia, Cardiomegaly, Hepatic failure, Open mouth, Everted lower lip ... OMIM:608013
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Feeding difficulties in infancy, Drooling, Open mouth, Malar flattening, Retrogn... OMIM:613670
Bencze Syndrome
Submucous cleft hard palate, Open bite ORPHA:1241
Multiple Pterygium Syndrome, X-Linked
Cleft upper lip, Flexion contracture, Depressed nasal ridge, Increased susceptibility to fracture... OMIM:312150
Carey-Fineman-Ziter Syndrome 1
Pierre-Robin sequence, Broad nasal tip, Flexion contracture, Trismus, Cryptorchidism, Gastroesoph... OMIM:254940
Genitopatellar Syndrome
Long philtrum, Delayed eruption of teeth, Short palm, Atrial septal defect, Cryptorchidism, Gastr... ORPHA:85201
Mulibrey Nanism
Hypoplastic frontal sinuses, Pericardial constriction, Wide nose, Enamel hypoplasia, Thickened co... OMIM:253250
Temple Syndrome
Short philtrum, High palate, Bifid uvula, Flexion contracture, Cryptorchidism, Feeding difficulti... OMIM:616222
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Short philtrum, Short 5th metacarpal, Convex nasal ridge, Hypoplasia of the maxilla, Short middle... OMIM:156510
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Cleft palate, Gingival overgrowth OMIM:119540
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia, Retrognathia OMIM:617194
Frontonasal Dysplasia 1
Broad nasal tip, Tetralogy of Fallot, Hypoplastic frontal sinuses, Median cleft palate, Wide nasa... OMIM:136760
Craniofacial-Deafness-Hand Syndrome
Narrow mouth, Depressed nasal ridge, Aplasia/Hypoplasia involving the nose, Hypoplasia of the max... ORPHA:1529
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis, Micrognathia, Retrognathia OMIM:615706
Kagami-Ogata Syndrome
Flexion contracture, Long philtrum, Atrial septal defect, Micrognathia, Pulmonic stenosis, Hypopl... OMIM:608149
Gillessen-Kaesbach-Nishimura Syndrome
Flexion contracture, Underdeveloped nasal alae, Convex nasal ridge, Decreased skull ossification,... OMIM:263210
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Respiratory insufficiency OMIM:613869
Multiple Mitochondrial Dysfunctions Syndrome 3
High palate, Respiratory failure, Feeding difficulties, Arthrogryposis multiplex congenita, Retro... OMIM:615330
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, High palate, Recurrent pneumonia, Feeding difficulties in infancy, Deep philtrum, Tented u... ORPHA:314655
Raine Syndrome
Microdontia, Micrognathia, Micromelia, Mandibular prognathia, Arthrogryposis multiplex congenita,... OMIM:259775
Sandestig-Stefanova Syndrome
High palate, Muscular ventricular septal defect, Respiratory failure, Wide nasal bridge, Convex n... OMIM:618804
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Achondrogenesis
Long philtrum, Abnormal enchondral ossification, Aplasia/Hypoplasia of the lungs, Micrognathia, M... ORPHA:932
Cardiocranial Syndrome, Pfeiffer Type
Bifid uvula, Temporomandibular joint ankylosis, Contracture of the proximal interphalangeal joint... ORPHA:2872
Hydrocephalus With Associated Malformations
Intestinal malrotation, Micrognathia, Lower limb undergrowth, Hydrocephalus, Short lower limbs, P... OMIM:236640
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Cleft Lip/Palate
Poor suck, Feeding difficulties in infancy, Abnormal number of permanent teeth, Peg-shaped maxill... ORPHA:199306
Multiple Pterygium Syndrome, Lethal Type
Flexion contracture, Depressed nasal ridge, Increased susceptibility to fractures, Micrognathia, ... OMIM:253290
Dyssegmental Dysplasia, Silverman-Handmaker Type
Narrow mouth, Flexion contracture, Limitation of joint mobility, Short ribs, Cryptorchidism, Wide... ORPHA:1865
Chondrodysplasia With Joint Dislocations, Gpapp Type
Narrow mouth, Coronal craniosynostosis, Short metacarpal, Wide nasal bridge, Micrognathia, Short ... OMIM:614078
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal palate morphology, Abnormal mitral valve morphology, Convex nasal ridge, Micrognathia, T... ORPHA:1277
Odontochondrodysplasia
Delayed eruption of teeth, Joint hyperflexibility, Short palm, Micromelia, Depressed nasal bridge... ORPHA:166272
Mandibulofacial Dysostosis With Alopecia
Trismus, Everted lower lip vermilion, Wide nasal bridge, Micrognathia, Hypoplasia of the maxilla,... OMIM:616367
Otopalatodigital Syndrome Type 2
Carpal synostosis, Short thumb, Micrognathia, Cleft palate, Short nose, Narrow mouth, Pierre-Robi... ORPHA:90652
Peroxisome Biogenesis Disorder 8A (Zellweger)
Death in infancy, Glossoptosis, Ventricular septal defect OMIM:614876
Qazi-Markouizos Syndrome
Delayed ossification of carpal bones, Drooling, Cryptorchidism, Open mouth, Hypoplasia of teeth, ... ORPHA:3010
Periventricular Nodular Heterotopia 7
Flexion contracture, Optic atrophy, Cryptorchidism, Micrognathia, Cleft palate OMIM:617201
Stuve-Wiedemann Syndrome 1
Smooth tongue, Osteoporosis, Micrognathia, Short tibia, Dysphagia, Wide nasal base, Short nose, T... OMIM:601559
Odontochondrodysplasia 1
Delayed ossification of carpal bones, Long philtrum, Delayed eruption of teeth, Short metacarpal,... OMIM:184260
Congenital Disorder Of Glycosylation, Type Iy
Widely spaced teeth, Feeding difficulties, Micrognathia, Respiratory distress, Wide mouth OMIM:300934
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
High palate, Restrictive ventilatory defect, Respiratory failure, Tongue fasciculations, Respirat... OMIM:614399
Oculocerebrofacial Syndrome, Kaufman Type
Short philtrum, Abnormal lip morphology, Abnormality of the optic nerve, Chorioretinal dystrophy,... ORPHA:2707
Stickler Syndrome, Type Ii
Pierre-Robin sequence, Abnormal vitreous humor morphology, Bifid uvula, Retinal detachment, Micro... OMIM:604841
Autosomal Recessive Distal Osteolysis Syndrome
Broad nasal tip, Hypoplasia of the maxilla, Short distal phalanx of finger, Osteolysis, Abnormali... ORPHA:2776
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Hepatic failure, Alveolar ridge overgrowth, Cryptorchidism, Wide nasal bridge, Pancr... OMIM:235255
Isolated Childhood Apraxia Of Speech
Submucous cleft hard palate, Drooling, High, narrow palate ORPHA:209908
Burn-Mckeown Syndrome
Narrow mouth, Short philtrum, Feeding difficulties in infancy, Bifid uvula, Cleft upper lip, Unde... OMIM:608572
Hypomandibular Faciocranial Dysostosis
Aglossia, Coronal craniosynostosis, Atrial septal defect, Choanal stenosis, Micrognathia, Hypopla... OMIM:241310
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Broad nasal tip, Recurrent upper respiratory tract infections, Flexion contracture, Constipation,... ORPHA:391372
Lethal Recessive Chondrodysplasia
Micrognathia, Macroglossia, Generalized osteosclerosis, Micromelia, Limb undergrowth, Respiratory... ORPHA:1423
Anencephaly 2
Cleft of alveolar ridge of maxilla, Median cleft palate, Median cleft lip OMIM:619452
Autosomal Recessive Amelia
Aplasia/Hypoplasia of the lungs, Non-midline cleft lip, Cryptorchidism, Amelia involving the uppe... ORPHA:1027
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Everted lower lip vermilion, Oral synechia, Cleft palate ORPHA:2016
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
High palate, Osteopenia, Contractures of the large joints, Deep philtrum, Micrognathia, Recurrent... ORPHA:329178
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Long philtrum, Elbow flexion contracture, Gastroesophageal reflux, Wide nasal bridge, Micrognathi... OMIM:616266
Primary Ciliary Dyskinesia
Double outlet right ventricle, Productive cough, Recurrent sinopulmonary infections, Wheezing, An... ORPHA:244
Marden-Walker Syndrome
Narrow mouth, High palate, Long philtrum, Joint contracture of the hand, Cryptorchidism, Dextroca... OMIM:248700
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Lujan-Fryns Syndrome
High palate, Short philtrum, Camptodactyly of finger, Atrial septal defect, Micrognathia, Hypopla... ORPHA:776
Lowry-Maclean Syndrome
Hydrocephalus, Craniosynostosis, Osteopenia, Osteoporosis, Convex nasal ridge, Micrognathia, High... ORPHA:2409
Tetrasomy 5P
High palate, Long philtrum, Short hallux, Wide nasal bridge, Micrognathia, Pulmonary arterial hyp... ORPHA:3309
Arthrogryposis, Distal, Type 1C
Narrow mouth, High palate, Bifid uvula, Cryptorchidism, Cleft lip, Wrist flexion contracture, Pur... OMIM:619110
Robinow Syndrome, Autosomal Dominant 2
Long philtrum, Abnormality of the dentition, Cleft soft palate, Cryptorchidism, Micrognathia, Sho... OMIM:616331
Auriculocondylar Syndrome
Narrow mouth, Bifid uvula, Feeding difficulties, Snoring, Micrognathia, Abnormality of the tempor... ORPHA:137888
Fetal Akinesia Deformation Sequence 2
High palate, Feeding difficulties in infancy, Flexion contracture, Cryptorchidism, Tented upper l... OMIM:618388
Skraban-Deardorff Syndrome
Constipation, Widely spaced teeth, Thick upper lip vermilion, Ventriculomegaly, Micrognathia, Fee... OMIM:617616
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Posteriorly placed tongue, Submucous cleft hard palate OMIM:192445
Whistling Face Syndrome, Recessive Form
Narrow mouth, High palate, Long philtrum, Trismus, Elbow flexion contracture, Underdeveloped nasa... OMIM:277720
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Microcephaly-Capillary Malformation Syndrome
Patent foramen ovale, Optic atrophy, Atrial septal defect, Hypoplasia of the maxilla, Short dista... OMIM:614261
Dislocation Of The Hip-Dysmorphism Syndrome
Narrow mouth, Abnormal palate morphology, Abnormal tricuspid valve morphology, Depressed nasal ri... ORPHA:2412
Fryns Syndrome
Long philtrum, Cryptorchidism, Tented upper lip vermilion, Micrognathia, Dandy-Walker malformatio... ORPHA:2059
3C Syndrome
Missing ribs, Abnormal mitral valve morphology, Micrognathia, High, narrow palate, Dandy-Walker m... ORPHA:7
Intellectual Developmental Disorder, Autosomal Recessive 14
Narrow palate OMIM:614020
Mental Retardation, X-Linked 91
High palate, Short 5th finger, Small hand, Macrodontia, Short foot, Short nose OMIM:300577
Edinburgh Malformation Syndrome
Narrow mouth, Anteverted nares, Joint stiffness, Micrognathia, Choanal atresia, Hydrocephalus, Re... ORPHA:1895
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Narrow mouth, High palate, Flexion contracture, Patent foramen ovale, Multiple prenatal fractures... OMIM:616866
Achondrogenesis Type 1B
Long philtrum, Abnormal enchondral ossification, Aplasia/Hypoplasia of the lungs, Micrognathia, M... ORPHA:93298
Robinow Syndrome, Autosomal Recessive 2
Broad nasal tip, Long philtrum, Wide nasal bridge, Micrognathia, Short nose, Bicuspid aortic valv... OMIM:618529
Auriculocondylar Syndrome 1
Apnea, Narrow mouth, Snoring, Micrognathia, Impaired mastication, Anterior open-bite malocclusion... OMIM:602483
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Unilambdoid synostosis, Long philtrum, Cryptorchidism, Wide nasal bridge, Ventriculomegaly, Micro... OMIM:618577
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Aplasia/Hypoplasia of the lungs, Convex nasal ridge, Micrognathia, Micromelia, ... ORPHA:2145
Chromosome 13Q33-Q34 Deletion Syndrome
Cryptorchidism, Tented upper lip vermilion, Short thumb, Micrognathia, Dandy-Walker malformation,... OMIM:619148
Satb2-Associated Syndrome Due To A Pathogenic Variant
High palate, Feeding difficulties in infancy, Bifid uvula, Osteopenia, Long philtrum, Drooling, A... ORPHA:576283
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Aplasia/Hypoplasia of the tongue, Missing ribs, Respiratory failure, Abnormality of the philtrum,... ORPHA:2759
Split-Hand/Foot Malformation 3
Narrow mouth, High palate, Hypoplasia of the maxilla, Microretrognathia, Camptodactyly, Cleft palate OMIM:246560
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Short philtrum, Bulbous nose, Wide nasal bridge, Feeding difficulties, Micrognathia, Respiratory ... ORPHA:261304
Alg3-Cdg
High palate, Osteopenia, Abnormality of the nose, Decreased liver function, Feeding difficulties,... ORPHA:79321
Variant Abeta2M Amyloidosis
Intestinal perforation, Abnormal salivary gland morphology, Cardiac amyloidosis, Multiple bony cy... ORPHA:314652
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Short philtrum, Everted lower lip vermilion, Mandibular prognathia, Thin upper lip vermilion, Sho... ORPHA:2429
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Short philtrum, Abnormality of the dentition, Thick upper lip vermilion, Thin upper lip vermilion... OMIM:226440
Lethal Congenital Contracture Syndrome 10
Overriding aorta, High palate, Long philtrum, Micrognathia, Ventricular septal defect, Hypoplasia... OMIM:617022
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal palate morphology, Convex nasal ridge, Choanal atresia, Hypoplasia of the maxilla, Malar... ORPHA:93262
Facial Paresis, Hereditary Congenital, 3
Feeding difficulties, Micrognathia, Depressed nasal bridge, Dysphagia, Smooth philtrum, Anteverte... OMIM:614744
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Abnormal pulmonary valve morphology, Short philtrum, Flexion contracture, Cryptorchidism, Hypertr... ORPHA:1194
Cohen Syndrome
Bull's eye maculopathy, Short philtrum, Feeding difficulties in infancy, Optic atrophy, Short met... OMIM:216550
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Poor suck, Dilated cardiomyopathy, Micrognathia, Respiratory insufficiency due to muscle weakness... OMIM:300580
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Cryptorchidism, Constipation, Gastroesophageal reflux, Slender nose, Feeding difficulties, Microg... OMIM:615419
Mitochondrial Myopathy And Sideroblastic Anemia
High palate, Short nose, Long philtrum, Micrognathia ORPHA:2598
Brachytelephalangic Chondrodysplasia Punctata
Broad nasal tip, Respiratory failure requiring assisted ventilation, Calcaneal epiphyseal stippli... ORPHA:79345
Blomstrand Lethal Chondrodysplasia
Long philtrum, Increased bone mineral density, Short ribs, Short metacarpal, Aplastic clavicle, R... ORPHA:50945
Myopathy, Centronuclear, 5
Narrow mouth, Dilated cardiomyopathy, High palate, Micrognathia, Hip contracture, Retrognathia, R... OMIM:615959
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Protuberant abdomen, Carious teeth, Widely spaced teeth, Wide nasal bridge, Sho... OMIM:617102
Maxillonasal Dysplasia, Binder Type
Short distal phalanx of finger, Depressed nasal bridge, Short columella, Dental malocclusion, Sho... OMIM:155050
Chung-Jansen Syndrome
Short philtrum, High palate, Anteverted nares, Long philtrum, Cryptorchidism, Micrognathia, Joint... OMIM:617991
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormal palate morphology, Long philtrum, Recurrent respiratory infections, Microretrognathia, S... ORPHA:1389
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Short ribs, Lobulated tongue, Rhizomelia, Cryptorchidism, Anal atresia, Cleft lip, Natal tooth, D... OMIM:616300
Melanocytic Nevus Syndrome, Congenital
Narrow nasal ridge, Broad nasal tip, Long philtrum, Open mouth, Deep philtrum, Prominence of the ... OMIM:137550
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Tetralogy of Fallot, Patent foramen ovale, Atrial septal defect, Cryptorchidism, Wide nasal bridg... OMIM:618316
Microcephaly-Micromelia Syndrome
Narrow mouth, Craniosynostosis, Wide nose, Absent radius, Convex nasal ridge, Micrognathia, Micro... OMIM:251230
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Widely-spaced incisors, Bulbous nose, Hypoplasia of the maxilla, Smooth philtrum, Thin upper lip ... OMIM:618737
Aarskog-Scott Syndrome
Cleft upper lip, Delayed eruption of teeth, Long philtrum, Camptodactyly of finger, Short palm, C... ORPHA:915
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Hypoplasia of the ulna, Respiratory failure, Micrognathia, Ventricular septal defect, Truncus art... OMIM:228940
Renal Dysplasia-Limb Defects Syndrome
Narrow mouth, High palate, Phocomelia, Short sternum, Short ribs, Short metacarpal, Cryptorchidis... OMIM:266910
Coffin-Lowry Syndrome
Abnormal mitral valve morphology, Everted lower lip vermilion, Widely spaced teeth, Abnormal aort... ORPHA:192
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Narrow nasal ridge, Bulbous nose, Choanal stenosis, Microretrognathia, Arthrogryposis multiplex c... OMIM:236500
Opitz gbbb syndrome, type II
Bifid uvula, Aspiration, Cryptorchidism, Micrognathia, Ventricular septal defect, Dysphagia, Thin... OMIM:145410
Hypomandibular Faciocranial Dysostosis
Aplasia/Hypoplasia of the tongue, Narrow mouth, Bifid uvula, Craniosynostosis, Maxillozygomatic h... ORPHA:1790
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Atrial septal defect, Feeding difficulties, Micrognathia, Hypoplasia of ... ORPHA:79113
Arthrogryposis, Distal, Type 7
Distal arthrogryposis, Trismus, Deep philtrum, Feeding difficulties, Micrognathia, Dysphagia, Art... OMIM:158300
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Long philtrum, Osteoarthritis, Micrognathia, Malar flattening, Glossoptosis, Cleft palate ORPHA:166100
Perlman Syndrome
Broad alveolar ridges, Cryptorchidism, Open mouth, Abnormal pancreas morphology, Wide nasal bridg... ORPHA:2849
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Pulmonary hypoplasia, Micrognathia, Arthrogryposis multiplex congenita OMIM:601809
Neu-Laxova Syndrome 2
High palate, Depressed nasal ridge, Cleft palate, Micrognathia OMIM:616038
Congenital Muscular Dystrophy, Ullrich Type
Abnormal palate morphology, Flexion contracture, Increased laxity of fingers, Hyperextensibility ... ORPHA:75840
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Narrow mouth, Atrial septal defect, Open mouth, Microdontia, Short distal phalanx of toe, Microgn... OMIM:619356
Platyspondylic Dysplasia, Torrance Type
Short palm, Hypoplastic scapulae, Micromelia, Short distal phalanx of finger, Depressed nasal bri... ORPHA:85166
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Narrow mouth, Feeding difficulties in infancy, Bulbous nose, Cryptorchidism, Micrognathia, Death ... OMIM:618766
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Tracheomalacia, Patent foramen ovale, Long philtrum, Joint laxity, Gastroesophageal re... OMIM:613177
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Chronic bronchitis, Micrognathia, Bronchiectasis, Macroglossia, Depressed n... OMIM:242860
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Respiratory failure, Reduced vital capacity, Respiratory ... ORPHA:266
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
High palate, Bulbous nose, Open mouth, Feeding difficulties, Micrognathia, Thin upper lip vermili... OMIM:613604
Congenital Muscular Dystrophy With Intellectual Disability
Multiple joint contractures, Abnormality of the tongue muscle, Cryptorchidism, Respiratory failur... ORPHA:370968
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Abnormal palate morphology, Anteverted nares, Cryptorchidism, Carious teeth, Hypertrophic cardiom... ORPHA:2701
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Microvillus inclusions, Osteopenia, Respiratory trac... OMIM:619445
Crouzon Syndrome
Multiple suture craniosynostosis, Convex nasal ridge, Choanal atresia, Hypoplasia of the maxilla,... ORPHA:207
Neurogenic Arthrogryposis Multiplex Congenita
Flexion contracture, Feeding difficulties, Ankle flexion contracture, Micrognathia, Knee flexion ... ORPHA:1143
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
High palate, Short philtrum, Long nose, Flexion contracture, Atrial septal defect, Open mouth, Jo... OMIM:309520
Amish Lethal Microcephaly
Optic atrophy, Cleft soft palate, Osteoporosis, Decreased skull ossification, Micrognathia, Ventr... ORPHA:99742
Baker-Gordon Syndrome
Joint laxity, Sleep apnea, Gastroesophageal reflux, Feeding difficulties, Smooth philtrum, Thin u... OMIM:618218
Chromosome 14Q11-Q22 Deletion Syndrome
Narrow mouth, High palate, Long philtrum, Patent foramen ovale, Cryptorchidism, Micrognathia, Dep... OMIM:613457
Congenital Disorder Of Glycosylation, Type Ie
Retinopathy, Abnormal macular morphology, Short palm, Upper limb undergrowth, Ankle flexion contr... OMIM:608799
Osteolysis Syndrome, Recessive
Broad nasal tip, Osteolytic defects of the middle phalanges of the hand, Osteolytic defects of th... OMIM:259610
Pfeiffer Syndrome
Hydrocephalus, High palate, Coronal craniosynostosis, Shortening of all middle phalanges of the f... OMIM:101600
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Short philtrum, Constipation, Aganglionic megacolon, Wide nasal bridge, Microretrognathia, Hydroc... OMIM:613603
Helsmoortel-Van Der Aa Syndrome
Broad nasal tip, Anteverted nares, Long philtrum, Joint laxity, Everted lower lip vermilion, Wide... OMIM:615873
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency
High palate, Respiratory insufficiency OMIM:616323
Cofs Syndrome
Feeding difficulties in infancy, Joint stiffness, Abnormality of retinal pigmentation, Everted lo... ORPHA:1466
Arthrogryposis, Distal, Type 2E
Narrow mouth, Distal arthrogryposis, Joint contractures involving the joints of the feet, Trismus... OMIM:121070
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Long philtrum, Short ribs, Respiratory failure, Hypoplasia of the radius, Micromelia, Depressed n... OMIM:617895
Mandibulofacial Dysostosis, Guion-Almeida Type
Feeding difficulties in infancy, Atrial septal defect, Deep philtrum, Micrognathia, Esophageal at... OMIM:610536
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Poor suck, High palate, Anteverted nares, Flexion contracture, Long philtrum, Broad columella, At... OMIM:619383
Orofaciodigital Syndrome Type 4
Bifid uvula, Abnormality of the tongue, Micrognathia, High, narrow palate, Micromelia, Retrognath... ORPHA:2753
Cleft Lip With Or Without Cleft Palate
Submucous cleft of soft and hard palate, Chronic sinusitis, Non-midline cleft palate, Non-midline... ORPHA:1991
Neuralgic Amyotrophy
Narrow mouth, Respiratory insufficiency, Cleft palate ORPHA:2901
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Oligodontia, Widely spaced teeth, Microdontia, Hypoplasia of the maxilla... OMIM:601216
Oculofaciocardiodental Syndrome
Long philtrum, Retinal detachment, Short thumb, Flexion contracture of the 2nd toe, Cleft palate,... ORPHA:2712
Fetal Trimethadione Syndrome
High palate, Tetralogy of Fallot, Atrial septal defect, Micrognathia, Depressed nasal bridge, Ven... ORPHA:1913
Congenital Heart Defects And Skeletal Malformations Syndrome
High palate, Long nose, Atrial septal defect, Intestinal malrotation, Cryptorchidism, Carious tee... OMIM:617602
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Short philtrum, Complete atrioventricular canal defect, Conical tooth, O... OMIM:619142
9q subtelomeric deletion syndrome
Abnormal heart morphology, Protruding tongue, Short nose DECIPHER:52
Laryngeal Abductor Paralysis
Respiratory insufficiency ORPHA:2808
Adducted Thumbs Syndrome
High palate, Velopharyngeal insufficiency, High, narrow palate, Respiratory insufficiency, Cleft ... OMIM:201550
Tarp Syndrome
Pierre-Robin sequence, Tongue nodules, Tetralogy of Fallot, Hypoplasia of proximal radius, Abnorm... ORPHA:2886
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Respiratory insufficiency, Median cleft palate ORPHA:2432
Nager Syndrome
Abnormal palate morphology, Joint stiffness, Phocomelia, Non-midline cleft lip, Aplasia/Hypoplasi... ORPHA:245
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Craniosynostosis, Micrognathia, Dandy-Walker malformation, Depressed nasal bridge, Ventricular se... OMIM:616901
Burn-Mckeown Syndrome
Abnormal palate morphology, Wide nasal bridge, Bilateral choanal atresia, Prominent nasal bridge,... ORPHA:1200
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure OMIM:616081
Temtamy Preaxial Brachydactyly Syndrome
Microdontia, Micrognathia, Proximal symphalangism of hands, Abnormality of the optic disc, Short ... ORPHA:363417
Al Amyloidosis
Nonproductive cough, Abnormal salivary gland morphology, Monoclonal light chain cardiac amyloidos... ORPHA:85443
Mosaic Trisomy 1
Short upper lip, Knee joint hypermobility, Thick lower lip vermilion, Wide nasal bridge, Depresse... ORPHA:1692
Acrodysostosis
Hypoplasia of the ulna, Delayed eruption of teeth, Open bite, Depressed nasal ridge, Short metaca... ORPHA:950
Martsolf Syndrome 1
High palate, Short philtrum, Broad nasal tip, Feeding difficulties in infancy, Tracheomalacia, Sh... OMIM:212720
Treacher Collins Syndrome 4
Feeding difficulties in infancy, Respiratory failure requiring assisted ventilation, Choanal sten... OMIM:618939
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Respiratory failure, Cough, Dyspnea, Aspirati... ORPHA:90117
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Wide nasal bridge, Sclerosis of skull base, Knee flexion contracture, Depres... OMIM:313420
Short-Rib Thoracic Dysplasia 12
Hamartoma of tongue, Ventricular septal defect, Median cleft lip and palate, Short toe, Patent fo... OMIM:269860
Kdm5C-Related Syndromic X-Linked Intellectual Disability
High palate, Short palm, Cryptorchidism, Hypoplasia of the maxilla, Prominent nasal bridge, Campt... ORPHA:85279
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pierre-Robin sequence, High palate, Short 5th metacarpal, Long philtrum, Thin upper lip vermilion... OMIM:617877
Intellectual Developmental Disorder, X-Linked, Syndromic 14
High palate, Hypoplasia of the maxilla, Prominent nasal bridge, Mandibular prognathia, Chronic co... OMIM:300676
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
Mesomelic Limb Shortening And Bowing
Mesomelic leg shortening, Micrognathia, Mesomelic arm shortening, Retrognathia, Camptodactyly of ... OMIM:249710
Ohdo Syndrome
Narrow mouth, Feeding difficulties in infancy, Anteverted nares, Long philtrum, Cryptorchidism, J... OMIM:249620
Marshall Syndrome
Abnormal vitreous humor morphology, High palate, Vitreoretinopathy, Hypoplastic frontal sinuses, ... ORPHA:560
Pierpont Syndrome
Broad nasal tip, Wide nose, Short palm, Cryptorchidism, Widely spaced teeth, Everted lower lip ve... OMIM:602342
Neu-Laxova Syndrome
Bifid uvula, Trismus, Everted lower lip vermilion, Osteoporosis, Micrognathia, Osteomalacia, Micr... ORPHA:2671
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Narrow mouth, Aplasia/Hypoplasia of the lungs, Depressed nasal ridge, Micrognathia, Respiratory i... ORPHA:1046
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Anteverted nares, Short nose ORPHA:1355
Lissencephaly Syndrome, Norman-Roberts Type
Patent foramen ovale, Abnormal retinal morphology, Atrial septal defect, Wide nasal bridge, Feedi... ORPHA:89844
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure, Tongue fasciculations OMIM:600561
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Joint stiffness, Cryptorchidism, Tooth agenesis, Micrognathia, Abnormality o... ORPHA:1166
Axenfeld-Rieger Syndrome, Type 2
Short philtrum, Anal stenosis, Cryptorchidism, Hypodontia, Microdontia, Everted lower lip vermili... OMIM:601499
8Q22.1 Microdeletion Syndrome
Craniosynostosis, Long philtrum, Camptodactyly of finger, Depressed nasal ridge, Cryptorchidism, ... ORPHA:178303
Meckel Syndrome, Type 8
Cleft upper lip, Depressed nasal ridge, Abdominal distention, Cleft palate, Short nose OMIM:613885
Cataract-Intellectual Disability-Hypogonadism Syndrome
High palate, Short philtrum, Feeding difficulties in infancy, Cryptorchidism, Everted lower lip v... ORPHA:1387
Hyperekplexia 4
High palate, Respiratory failure OMIM:618011
Acrocephalopolydactyly
Depressed nasal ridge, Protuberant abdomen, Limb undergrowth, Abnormality of the mouth, Short nose ORPHA:221054
Short Stature-Wormian Bones-Dextrocardia Syndrome
Broad alveolar ridges, High palate, Delayed eruption of teeth, Cryptorchidism, Abnormality of the... ORPHA:2863
14Q24.1Q24.3 Microdeletion Syndrome
Long philtrum, Atrial septal defect, Intestinal malrotation, Joint laxity, Cryptorchidism, Wide n... ORPHA:401935
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Trismus, Cryptorchidism, Micrognathia, Abnormal heart morphology, Sagittal craniosynostosis OMIM:218450
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Pierre-Robin sequence, Tracheomalacia, Short palm, Cryptorchidism, Micrognathia, Depressed nasal ... OMIM:217980
Glutamine Deficiency, Congenital
Dilation of lateral ventricles, Anteverted nares, Flexion contracture, Neonatal death, Wide nasal... OMIM:610015
Chromosome 18P Deletion Syndrome
High palate, Cryptorchidism, Wide nasal bridge, Micrognathia, Anteverted nares, Tooth malposition... OMIM:146390
Distal Tetrasomy 15Q
High palate, Craniosynostosis, Flexion contracture, Atrial septal defect, Micrognathia, Dandy-Wal... ORPHA:314588
Achondrogenesis, Type Ib
Absent or minimally ossified vertebral bodies, Short ribs, Micromelia, Abdominal distention, Mala... OMIM:600972
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
High palate, Anteverted nares, Long philtrum, Anal stenosis, Atrial septal defect, Open mouth, Hy... OMIM:614080
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening, Short nose OMIM:122880
Peroxisome Biogenesis Disorder 1A (Zellweger)
High palate, Cryptorchidism, Epiphyseal stippling, Feeding difficulties, Micrognathia, Macrogloss... OMIM:214100
Atelosteogenesis Type I
Malrotation of colon, Absent or minimally ossified vertebral bodies, Rhizomelia, Retinal dysplasi... ORPHA:1190
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Minicore Myopathy With External Ophthalmoplegia
High palate, Feeding difficulties in infancy, Joint laxity, Recurrent respiratory infections, Res... OMIM:255320
Severe X-Linked Intellectual Disability, Gustavson Type
Recurrent upper respiratory tract infections, Apneic episodes in infancy, Dilated fourth ventricl... ORPHA:3078
Mcdonough Syndrome
Short philtrum, Atrial septal defect, Cryptorchidism, Micrognathia, Pulmonic stenosis, Furrowed t... OMIM:248950
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Craniosynostosis, Anteverted nares, Long philtrum, Short palm, Cryptorchidism, Micrognathia, Radi... ORPHA:171839
Nemaline Myopathy 8
Death in infancy, Respiratory failure OMIM:615348
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Respiratory insufficiency, Respiratory failure OMIM:605711
Alg9-Cdg
Bifid uvula, Long philtrum, Underdeveloped nasal alae, Abnormal bone ossification, Micrognathia, ... ORPHA:79328
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
High palate, Long philtrum, Increased bone mineral density, Hypopigmentation of the fundus, Retin... ORPHA:163649
Hamel Cerebro-Palato-Cardiac Syndrome
Narrow mouth, Bulbous nose, Atrial septal defect, Wide nasal bridge, Micrognathia, Malar flatteni... ORPHA:93946
Radio-Renal Syndrome
Chylothorax, Short palm, Respiratory failure, Hypoplasia of the radius, Pleural effusion, Microgn... ORPHA:3015
Bronchopulmonary Dysplasia
Abnormal respiratory system physiology, Emphysema, Pulmonary sequestration, Respiratory failure r... ORPHA:70589
Intellectual Developmental Disorder, X-Linked 90
High palate, Bifid uvula OMIM:300850
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Narrow mouth, Reduced bone mineral density, Thin vermilion border, Short nose, Abnormal cardiac s... ORPHA:2370
Scedosporiosis
Abnormal respiratory system physiology, Sinusitis, Abnormal jejunum morphology, Pneumonia, Bronch... ORPHA:449280
Crisponi Syndrome
Narrow mouth, High palate, Flexion contracture, Long philtrum, Camptodactyly of finger, Feeding d... ORPHA:1545
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
11 pairs of ribs, Wide nasal bridge, Feeding difficulties, Glossoptosis, Hyperextensibility of th... OMIM:618356
Intellectual Developmental Disorder, X-Linked 21
Open mouth, Tented upper lip vermilion, Joint hypermobility, Dental crowding, Macroorchidism, Man... OMIM:300143
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid uvula OMIM:256200
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Vertebral hypoplasia, Flexion contracture, Cleft upper lip, Short ribs, Epiphyseal stippling, Hyp... OMIM:308050
Diamond-Blackfan Anemia 6
Tetralogy of Fallot, Bifid uvula, Cleft upper lip, Tracheomalacia, Atrial septal defect, Short th... OMIM:612561
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Feeding difficulties in infancy, Intestinal malrotation, Vomiting, Abdominal distention, Pyloric ... OMIM:300048
Asbestos Intoxication
Hypoxemia, Late inspiratory crackles, Abnormal pulmonary interstitial morphology, Wheezing, Pulmo... ORPHA:2302
Marshall-Smith Syndrome
Craniosynostosis, Joint hyperflexibility, Optic atrophy, Open mouth, Increased susceptibility to ... ORPHA:561
Tetrasomy 12P
Delayed eruption of teeth, Long philtrum, Abnormal soft palate morphology, Everted lower lip verm... ORPHA:884
Atelosteogenesis Type Ii
Long philtrum, Rhizomelic arm shortening, Micrognathia, Micromelia, Bilateral cleft palate, Thin ... ORPHA:56304
Baraitser-Winter Syndrome 1
Chorioretinal coloboma, Cleft upper lip, Long philtrum, Cryptorchidism, Wide nasal bridge, Ventri... OMIM:243310
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
High palate, Distal arthrogryposis, Long philtrum, Tented upper lip vermilion, Respiratory tract ... OMIM:618975
Simpson-Golabi-Behmel Syndrome, Type 2
High palate, Recurrent upper respiratory tract infections, Pneumonia, U-Shaped upper lip vermilio... OMIM:300209
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft upper lip, Lower lip pit, Hypodontia, Lip pit, Cleft pa... ORPHA:888
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Tracheomalacia, Long philtrum, Microdontia, Osteoporosis, Micrognathia, Dentinogenesis imperfecta... ORPHA:536467
Puerto Rican Infant Hypotonia Syndrome
High palate, Long philtrum, Drooling, Cryptorchidism, Open mouth, Constipation, Abdominal distent... OMIM:600096
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Pulmonary arterial hypertension, Cardiomyopathy, Neonatal respiratory distress, P... OMIM:619003
Hyperphosphatasia With Mental Retardation Syndrome 1
Broad nasal tip, Delayed ossification of carpal bones, Constipation, Tented upper lip vermilion, ... OMIM:239300
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Respiratory insufficiency, Respiratory failure, Hypercapnia OMIM:267480
Tetraamelia Syndrome 2
Bilateral cleft lip, Micrognathia, Microretrognathia, Glossoptosis, Ventricular septal defect, Hy... OMIM:618021
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Cleft upper lip, Atrophic gastritis, Cleft palate OMIM:137215
Pycnodysostosis
Micrognathia, Small hand, Decreased response to growth hormone stimulation test, High palate, Inc... ORPHA:763
Premature Aging Syndrome, Penttinen Type
Osteopenia, Delayed eruption of teeth, Narrow nose, Micrognathia, Hypoplasia of the maxilla, Oste... OMIM:601812
Pycnodysostosis
Narrow palate, Increased bone mineral density, Hypodontia, Carious teeth, Osteolytic defects of t... OMIM:265800
Nablus Mask-Like Facial Syndrome
Narrow mouth, High palate, Craniosynostosis, Long philtrum, Abnormality of the dentition, Cryptor... OMIM:608156
Moebius Syndrome
High palate, Feeding difficulties in infancy, Bifid uvula, Aplasia/Hypoplasia involving the metac... OMIM:157900
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Complete atrioventricular canal defect, Absent nasal bridge, Tetralogy of Fallot, Decreased calva... OMIM:617925
Chromosome 22Q11.2 Duplication Syndrome
High palate, Depressed nasal ridge, Micrognathia, Velopharyngeal insufficiency OMIM:608363
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Patent foramen ovale, Multiple prenatal fractures, Respiratory failure, Dysp... OMIM:616867
Congenital Tracheomalacia
Tracheomalacia, Productive cough, Single ventricle, Ventricular septal defect, Cardiomegaly, Whee... ORPHA:95430
Myotubular Myopathy With Abnormal Genital Development
High palate, Unilateral cryptorchidism, Neonatal death, Feeding difficulties, Joint hypermobility... OMIM:300219
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Narrow mouth, High palate, Short philtrum, Bifid uvula, Cryptorchidism, Feeding difficulties, Mic... ORPHA:96184
Primary Effusion Lymphoma
Pleural effusion, Dyspnea, Abdominal pain, Abdominal distention, Pericardial effusion ORPHA:48686
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bifid uvula, Long philtrum, Cryptorchidism, Intestinal malrotation, Abnormal oral frenulum morpho... ORPHA:404440
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Absent ossification of capital femoral epiphysis, Feeding difficulties in infancy, Goiter, Consti... ORPHA:226313
Distal Trisomy 18Q
High palate, Cryptorchidism, Carious teeth, Micrognathia, Choanal atresia, Abnormality of dental ... ORPHA:1716
Birk-Barel Syndrome
Submucous cleft soft palate, High palate, Short philtrum, Bifid uvula, Tented upper lip vermilion OMIM:612292
Cerebrofacioarticular Syndrome
Narrow mouth, Feeding difficulties in infancy, Osteopenia, Tracheomalacia, Anal stenosis, Bilater... ORPHA:314679
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Tetralogy of Fallot, Atrial septal defect, Cryptorchidism, Wide na... OMIM:601186
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
High palate, Flexion contracture, Osteopenia, Wide nasal bridge, Feeding difficulties, Limb under... OMIM:618005
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
High palate, Underdeveloped nasal alae, Wide nasal bridge, Joint contracture of the 5th finger, M... OMIM:248910
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Wide nasal bridge, Hydrocephalus OMIM:618302
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Hypoplasia of the maxilla, Craniosynostosis, Prominent nasal bridge OMIM:608432
Apert Syndrome
Ectopic anus, Feeding difficulties in infancy, Bifid uvula, Delayed eruption of teeth, Optic atro... ORPHA:87
Adenylosuccinate Lyase Deficiency
Long philtrum, Smooth philtrum, Thin upper lip vermilion, Anteverted nares, Short nose ORPHA:46
Thanatophoric Dysplasia
Joint stiffness, Atrial septal defect, Ventriculomegaly, Micromelia, Depressed nasal bridge, Hydr... ORPHA:2655
Combined Oxidative Phosphorylation Deficiency 8
Death in infancy, Hypertrophic cardiomyopathy, Pulmonary hypoplasia OMIM:614096
X-Linked Intellectual Disability, Porteous Type
Hypoplasia of the maxilla, Short philtrum, Bulbous nose, Mandibular prognathia ORPHA:93945
Trehalase Deficiency
Abdominal pain, Abdominal distention, Malabsorption, Diarrhea, Vomiting ORPHA:103909
Multiple Epiphyseal Dysplasia, Lowry Type
Broad nasal tip, Fibular hypoplasia, Rhizomelia, Micrognathia, Knee flexion contracture, Fixed el... ORPHA:166016
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Hypoplasia of the ulna, Patent foramen ovale, Long philtrum, Rhizomelia, Cryptorchidism, Hypoplas... OMIM:602613
Distal Xq28 Microduplication Syndrome
High palate, Broad nasal tip, Recurrent upper respiratory tract infections, Patent foramen ovale,... ORPHA:293939
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Feeding difficulties, Respiratory distress, Left ventricular hypertrophy, Pu... OMIM:616733
Distal Limb Deficiencies-Micrognathia Syndrome
Narrow mouth, High palate, Aplasia/Hypoplasia of the thumb, Cryptorchidism, Microdontia, Hypoplas... ORPHA:1307
Hemifacial Atrophy, Progressive
Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Czeizel-Losonci Syndrome
High palate, Tracheoesophageal fistula, Dextrocardia, Micrognathia, Hypoplastic nipples, Hydrocep... ORPHA:2437
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short 4th metacarpal, Hypodontia, Aplasia/Hypoplasia of the distal phalanges of the toes, Abnorma... ORPHA:3201
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, High palate, Short philtrum, Abnormal lung lobation, Rudimentar... ORPHA:958
Autosomal Dominant Omodysplasia
Short palm, Long philtrum, Rhizomelia, Cryptorchidism, Micrognathia, Depressed nasal bridge, Mala... ORPHA:93328
Fetal Alcohol Syndrome
Joint stiffness, Non-midline cleft lip, Atrial septal defect, Microdontia, Micrognathia, Smooth p... ORPHA:1915
Emanuel Syndrome
Bifid uvula, Long philtrum, Cryptorchidism, Constipation, Micrognathia, Dandy-Walker malformation... ORPHA:96170
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory failure, Wide nasal bridge, Respiratory insufficiency, Retinal atrophy, Rod-cone dyst... OMIM:610127
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Joint stiffness, Underdeveloped nasal alae, High, narrow palate, Micrognathia, Short distal phala... ORPHA:2516
Fontaine Progeroid Syndrome
Long philtrum, Cryptorchidism, Everted lower lip vermilion, Microdontia, Micrognathia, High, narr... OMIM:612289
Severe X-Linked Mitochondrial Encephalomyopathy
Feeding difficulties in infancy, Respiratory insufficiency, Tongue fasciculations, Respiratory di... ORPHA:238329
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure OMIM:225753
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea, Pulmonary hypoplasia OMIM:615228
Rhiny
Anteverted nares, Thin vermilion border, Short nose OMIM:180360
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intestinal malrotation, Micrognathia, Lower limb undergrowth, Abnormally ossified vertebrae, Aque... ORPHA:3035
Myopathy, Congenital, With Tremor
Narrow mouth, High palate, Flexion contracture, Prominent nasolabial fold, Micrognathia OMIM:618524
Encephalopathy Due To Sulfite Oxidase Deficiency
Feeding difficulties in infancy, Long philtrum, Abnormal pattern of respiration, Nausea and vomit... ORPHA:833
Distal Trisomy 5Q
Narrow mouth, Absent thumb, Chorioretinal coloboma, Craniosynostosis, Hypoplasia of the ulna, Lon... ORPHA:96097
Combined Oxidative Phosphorylation Deficiency 25
Anteverted nares, Long philtrum, Wide nasal bridge, Feeding difficulties, Depressed nasal bridge,... OMIM:616430
Synaptic Congenital Myasthenic Syndromes
Poor suck, High palate, Right ventricular hypertrophy, Sleep apnea, Limited wrist extension, Resp... ORPHA:98915
Chromosome 3Pter-P25 Deletion Syndrome
High palate, Broad nasal tip, Anteverted nares, Macular hypoplasia, Long philtrum, Cryptorchidism... OMIM:613792
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
High palate, Patent foramen ovale, Bulbous nose, Arthrogryposis-like hand anomaly, Open mouth, Cr... ORPHA:369891
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Broad nasal tip, Hepatic failure, Alveolar ridge overgrowth, Cryptorchidism, Pancrea... ORPHA:1655
Andersen Cardiodysrhythmic Periodic Paralysis
High palate, Short palm, Bulbous nose, Enamel hypoplasia, Prominent frontal sinuses, Oligodontia,... OMIM:170390
Keipert Syndrome
Aplasia/Hypoplasia of the distal phalanges of the toes, Short hallux, Tented upper lip vermilion,... ORPHA:2662
Brachycephaly, Trichomegaly, And Developmental Delay
High palate, Bifid uvula, Open mouth, Thick lower lip vermilion, Supernumerary tooth, Submucous c... OMIM:617412
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Cryptorchidism, Hypertrophic cardiomyopathy, Macroglossia, Dandy-Walker malformation... OMIM:612938
Mosaic Trisomy 14
High palate, Ectopic anus, Cryptorchidism, Wide nasal bridge, Micrognathia, Prominent nasal bridg... ORPHA:1703
Mohr Syndrome
Accessory oral frenulum, High palate, Tongue nodules, Broad nasal tip, Hydrocephalus, Short palm,... OMIM:252100
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Unilateral cleft lip, Bifid uvula, Cleft palate ORPHA:2736
Kleefstra Syndrome
Tracheomalacia, Cryptorchidism, Constipation, Everted lower lip vermilion, Tented upper lip vermi... ORPHA:261494
Faciocardiomelic Dysplasia, Lethal
Narrow mouth, Hypoplasia of the ulna, Fibular hypoplasia, Short 5th finger, Hypoplasia of the rad... OMIM:227270
Lethal Congenital Contracture Syndrome 1
Pulmonary hypoplasia, Neonatal death, Micrognathia, Arthrogryposis multiplex congenita OMIM:253310
Osteogenesis Imperfecta, Type Xii
Narrow mouth, High palate, Generalized osteoporosis, Delayed eruption of teeth, Osteoporosis, Mic... OMIM:613849
Endocardial Fibroelastosis
Abnormal palate morphology, Endocardial fibroelastosis, Cryptorchidism, Anterior hypopituitarism,... ORPHA:2022
Fatty Acyl-Coa Reductase 1 Deficiency
Long philtrum, Dandy-Walker malformation, Depressed nasal bridge, Smooth philtrum, Thin upper lip... ORPHA:438178
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid uvula ORPHA:2669
Autism Spectrum Disorder Due To Auts2 Deficiency
Narrow mouth, Short philtrum, Feeding difficulties in infancy, Anteverted nares, Atrial septal de... ORPHA:352490
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Submucous cleft hard palate, Bifid uvula OMIM:619239
Myopathy, Congenital, Bailey-Bloch
High palate, Restrictive ventilatory defect, Flexion contracture, Cryptorchidism, Feeding difficu... OMIM:255995
Linear Skin Defects With Multiple Congenital Anomalies 2
Tetralogy of Fallot, Long philtrum, Atrial septal defect, Pulmonary arterial hypertension, Optic ... OMIM:300887
Non-Distal Trisomy 13Q
High palate, Long philtrum, Cryptorchidism, Everted lower lip vermilion, Micrognathia, Abnormalit... ORPHA:1702
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
German Syndrome
High palate, Tetralogy of Fallot, Cryptorchidism, Open mouth, Everted lower lip vermilion, Wide n... ORPHA:2077
Camptodactyly Syndrome, Guadalajara Type 1
Narrow mouth, High palate, Open bite, Abnormality of dental eruption, Short distal phalanx of fin... ORPHA:1327
Congenital Fiber-Type Disproportion Myopathy
Hypoxemia, Micrognathia, Intercostal muscle weakness, Dysphagia, High palate, Nasogastric tube fe... ORPHA:2020
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Short philtrum, Atrial septal defect, Thick lower lip vermilion, Micrognathia, Widely-spaced maxi... OMIM:608227
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Abnormality of dental morphology, Depressed nasal br... ORPHA:1458
Pde4D Haploinsufficiency Syndrome
Short philtrum, Long philtrum, Short metacarpal, Joint laxity, Upper limb undergrowth, Cryptorchi... ORPHA:439822
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Respiratory failure, Death in childhood OMIM:619334
Greenberg Dysplasia
Multiple prenatal fractures, Hypoplastic vertebral bodies, 11 pairs of ribs, Decreased skull ossi... OMIM:215140
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Long philtrum, Cryptorchidism, Microdontia, Generalized joint laxity, Micrognathia, Ventricular s... ORPHA:251028
Spondylometaphyseal Dysplasia, Schmidt Type
Poor suck, Nasogastric tube feeding in infancy, Short femoral neck, Cleft soft palate, Gastroesop... ORPHA:93316
Chromosome 1P35 Deletion Syndrome
Narrow mouth, High palate, Cryptorchidism, Wide nasal bridge, Micrognathia, Thin upper lip vermilion OMIM:617930
Spondylodysplastic Ehlers-Danlos Syndrome
Generalized osteoporosis, Long philtrum, Cryptorchidism, Agenesis of pineal gland, Optic nerve hy... ORPHA:536471
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
High palate, Short philtrum, Long philtrum, Bulbous nose, Atrial septal defect, Oligodontia, Wide... OMIM:617061
Prader-Willi Syndrome Due To Translocation
Poor suck, Broad nasal tip, Underdeveloped nasolabial fold, Bifid uvula, Everted lower lip vermil... ORPHA:177907
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Rectovaginal fistula, Interstitial emphysema, Micrognathia, Bronchiectasis, Inflammation of the l... OMIM:619708
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Chronic rhinit... OMIM:608647
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Micrognathia, Abnormal cortical bone morphology, Limitation of joint mobilit... ORPHA:1486
Rubinstein-Taybi Syndrome 2
High palate, Intestinal malrotation, Carious teeth, Convex nasal ridge, Micrognathia, Increased o... OMIM:613684
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Short philtrum, Craniosynostosis, Underdeveloped nasal alae, Open mouth, Wide nasal bridge, Micro... ORPHA:1516
Oculodentodigital Dysplasia, Autosomal Recessive
Narrow mouth, Long nose, Delayed eruption of teeth, Long philtrum, Underdeveloped nasal alae, Nar... OMIM:257850
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Long philtrum, Bulbous nose, Retinal coloboma, Deep philtrum, Wide nasal bridge, Cleft lip, Abnor... OMIM:618571
Fibrochondrogenesis 1
Narrow mouth, Stillbirth, Patent foramen ovale, Long philtrum, Fibular hypoplasia, Posterior vert... OMIM:228520
Nemaline Myopathy 3
Dilated cardiomyopathy, High palate, Feeding difficulties in infancy, Respiratory insufficiency d... OMIM:161800
Congenital Disorder Of Glycosylation, Type Ih
Long philtrum, Cryptorchidism, Vomiting, Decreased liver function, Abnormal heart morphology, Abd... OMIM:608104
Autosomal Recessive Multiple Pterygium Syndrome
High palate, Long philtrum, Limitation of joint mobility, Cryptorchidism, Abnormality of the tong... ORPHA:2990
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy, High palate, Flexion contracture, Feeding difficulties, Micrognathia, Res... ORPHA:171442
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency OMIM:617732
Cornelia De Lange Syndrome 2
High palate, Anteverted nares, Gastroesophageal reflux, Hypertrophic cardiomyopathy, Ventriculome... OMIM:300590
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, High palate, Recurrent upper respiratory tract infections, Flexion contracture, C... OMIM:300534
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Type II pneumocyte hypertrophy, Respiratory failure... OMIM:263000
Craniosynostosis And Dental Anomalies
Lambdoidal craniosynostosis, Craniosynostosis, Delayed eruption of teeth, Coronal craniosynostosi... OMIM:614188
Rhizomelic Chondrodysplasia Punctata, Type 1
Flexion contracture, Rhizomelia, Epiphyseal stippling, Micrognathia, Depressed nasal bridge, Mala... OMIM:215100
Subaortic Stenosis--Short Stature Syndrome
Narrow mouth, Short upper lip, Short palm, Subvalvular aortic stenosis, Short foot, Wide nasal br... OMIM:271960
Gaucher Disease, Type Ii
Trismus, Protuberant abdomen, Feeding difficulties, Dysphagia, Apnea, Recurrent aspiration pneumonia OMIM:230900
Meier-Gorlin Syndrome 4
Emphysema, Narrow mouth, Cryptorchidism, Thick lower lip vermilion, Feeding difficulties, Microgn... OMIM:613804
Ring Chromosome 8 Syndrome
Anteverted nares, Abnormal palate morphology, Short nose ORPHA:1450
Harel-Yoon Syndrome
Hypertrophic cardiomyopathy, Feeding difficulties, Micrognathia, Mandibular prognathia, Optic atr... OMIM:617183
Desmosterolosis
Hypoplastic nasal bridge, Total anomalous pulmonary venous return, Rhizomelia, Gingival fibromato... OMIM:602398
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short philtrum, Short palm, Depressed nasal ridge, Rhizomelia, Micrognathia, Hydrocephalus, Death... ORPHA:163966
Musculocontractural Ehlers-Danlos Syndrome
Narrow mouth, High palate, Malrotation of small bowel, Craniosynostosis, Abnormal heart valve mor... ORPHA:2953
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Narrow mouth, Absent nares, Aplasia/Hypoplasia involving the nose, Situs inversus totalis, Mandib... ORPHA:990
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
High palate, Micrognathia, Joint hypermobility, Bronchiectasis, Recurrent respiratory infections,... OMIM:618282
Desmosterolosis
Narrow mouth, Bifid uvula, Increased bone mineral density, Intestinal malrotation, Abnormality of... ORPHA:35107
Peho Syndrome
Abnormal palate morphology, Flexion contracture, Optic atrophy, Open mouth, Feeding difficulties,... ORPHA:2836
Femoral-Facial Syndrome
Long philtrum, Cryptorchidism, Ventriculomegaly, Micrognathia, Radioulnar synostosis, Aplasia/Hyp... ORPHA:1988
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Short philtrum, Bifid uvula, Bilateral cleft lip, Bulbous nose, Deep philtrum, Tented upper lip v... OMIM:618622
Catel-Manzke Syndrome
Overriding aorta, High palate, Cleft upper lip, Cryptorchidism, Joint laxity, Dextrocardia, Micro... OMIM:616145
Lethal Faciocardiomelic Dysplasia
Narrow mouth, Hypoplasia of the ulna, Fibular hypoplasia, Radial club hand, Short 5th finger, Hyp... ORPHA:1972
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormal respiratory system physiology, Aplasia/hypoplasia involving bones of the extremities, De... ORPHA:93346
Diabetes Insipidus, Neurohypophyseal
Central diabetes insipidus, Osteopenia, Long philtrum, Wide nose, Short nose OMIM:125700
Oromandibular Dystonia
Abnormality of the nose, Impaired mastication, Abnormal mandible morphology, Abnormality of the t... ORPHA:93958
Congenital Hypothyroidism
Sinusitis, Feeding difficulties in infancy, Anosmia, Abnormal pericardium morphology, Depressed n... ORPHA:442
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Poor suck, High palate, Micrognathia, Respiratory insufficiency due to muscle weakness, Dysphagia... OMIM:608930
16P12.1P12.3 Triplication Syndrome
Abnormal tricuspid valve morphology, Long philtrum, Bulbous nose, Atrial septal defect, Short 5th... ORPHA:485405
Intermediate Nemaline Myopathy
Flexion contracture, Long philtrum, Multiple prenatal fractures, Respiratory failure, High, narro... ORPHA:171433
Autosomal Recessive Centronuclear Myopathy
Narrow mouth, High palate, Bifid uvula, Abnormal heart valve morphology, Hip contracture, Retrogn... ORPHA:169186
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Underdeveloped nasal alae, Depressed nasal ridge, Abnormality of the optic nerve, Intestinal malr... ORPHA:77300
Aarskog-Scott Syndrome
Cleft upper lip, Short palm, Cryptorchidism, Joint laxity, Hypodontia, Short 5th finger, Wide nas... OMIM:305400
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Bifid uvula, Long philtrum, Dandy-Walker malformation, Small hand, Cleft palate, Unilateral breas... OMIM:300968
Ohdo Syndrome, X-Linked
Narrow mouth, Long philtrum, Bulbous nose, Cryptorchidism, Wide nasal bridge, Feeding difficultie... OMIM:300895
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Abnormal cartilage matrix, Neonatal death, Respiratory insufficiency, Pulmonary h... OMIM:245650
Ramos-Arroyo Syndrome
Narrow mouth, Deviated nasal septum, Feeding difficulties in infancy, Anteverted nares, Smooth to... ORPHA:1051
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Bardet-Biedl Syndrome 16
Retinal degeneration, Bronchiolitis, Recurrent respiratory infections, Rod-cone dystrophy, Respir... OMIM:615993
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Micrognathia, Vertebral fusion, Cleft palate, Prominent nose OMIM:221950
Arthrogryposis, Distal, Type 2A
Long philtrum, Underdeveloped nasal alae, Cryptorchidism, Mandibular prognathia, Short nose, Narr... OMIM:193700
Fetal Akinesia Deformation Sequence 4
High palate, Flexion contracture, Cryptorchidism, Micrognathia, Arthrogryposis multiplex congenit... OMIM:618393
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Poor suck, High palate, Nasogastric tube feeding in infancy, Respiratory failure requiring assist... ORPHA:254864
Pfeiffer Syndrome Type 2
Hydrocephalus, High palate, Tracheomalacia, Limitation of joint mobility, Intestinal malrotation,... ORPHA:93259
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Tetralogy of Fallot, Bifid uvula, Non-midline cleft lip, Enamel hypoplas... ORPHA:2919
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Long philtrum, Cryptorchidism, Tented upper lip vermilion, Micrognathia, Macroglossia, Ventricula... ORPHA:96334
Foxg1 Syndrome Due To 14Q12 Microdeletion
Bulbous nose, Gastroesophageal reflux, Everted lower lip vermilion, Excessive salivation, Tented ... ORPHA:261144
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Respiratory failure, Stillbirth, Anal atresia OMIM:276950
Jackson-Weiss Syndrome
Abnormal palate morphology, Convex nasal ridge, Hypoplasia of the maxilla, Mandibular prognathia,... ORPHA:1540
Kleefstra Syndrome 1
Anteverted nares, Conotruncal defect, Cryptorchidism, Gastroesophageal reflux, Everted lower lip ... OMIM:610253
Okur-Chung Neurodevelopmental Syndrome
High palate, Constipation, Wide nasal bridge, Feeding difficulties, Micrognathia, Joint hypermobi... OMIM:617062
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Short philtrum, Ventriculomegaly, Depressed nasal bridge, Anteverted nares, Downturned corners of... OMIM:613443
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Tetralogy of Fallot, Anteverted nares, Long philtrum, Short femoral neck, Velopharyngeal insuffic... OMIM:614701
Tetraploidy
Short philtrum, Aplasia/Hypoplasia of the lungs, Radial club hand, Convex nasal ridge, Micrognath... ORPHA:3305
Cohen Syndrome
Aplasia/Hypoplasia of the tongue, Short philtrum, Feeding difficulties in infancy, Macrodontia, O... ORPHA:193
Developmental Delay With Or Without Dysmorphic Facies And Autism
Cryptorchidism, Narrow nose, Micrognathia, Thin upper lip vermilion, Cleft palate, Short nose, Pa... OMIM:618454
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Crowded maxillary incisors, Mandibular prognathia ORPHA:397973
Fibrochondrogenesis 2
Short ribs, Protuberant abdomen, Micrognathia, Malar flattening, Anteverted nares, Short nose OMIM:614524
Developmental And Epileptic Encephalopathy 80
High palate, Long philtrum, Tented upper lip vermilion, Wide nasal bridge, Micrognathia, Ventricu... OMIM:618580
X-Linked Intellectual Disability, Sutherland-Haan Type
Hypoplasia of the maxilla, Anal atresia, Mandibular prognathia, Decreased testicular size ORPHA:93950
X-Linked Centronuclear Myopathy
Poor suck, High palate, Feeding difficulties in infancy, Respiratory failure requiring assisted v... ORPHA:596
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Macroglossia, Depressed nasal bridge, Malar flattening, Anteverted nares, Short nose OMIM:613038
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal atrioventricular valve morphology, Bulbous nose, Contractures of the large joints, Evert... ORPHA:324410
Chromosome 16P13.3 Duplication Syndrome
Bulbous nose, Atrial septal defect, Malar flattening, Ventricular septal defect, Short toe, Campt... OMIM:613458
Cornelia De Lange Syndrome 5
High palate, Broad nasal tip, Anteverted nares, Feeding difficulties in infancy, Long philtrum, C... OMIM:300882
Sarcoidosis, Susceptibility To, 1
Emphysema, Abnormal salivary gland morphology, Restrictive ventilatory defect, Hypoxemia, Chorior... OMIM:181000
Microphthalmia With Limb Anomalies
High palate, Cleft upper lip, Hand oligodactyly, 4-5 metacarpal synostosis, Fibular hypoplasia, F... OMIM:206920
Autosomal Recessive Omodysplasia