Gene Summary

Name:
homeobox A2
Synonyms:
Hox-1.11

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal gait Hoxa2tm1b(EUCOMM)Wtsi HET Early adult 5.47×10-05
decreased respiratory quotient Hoxa2tm1b(EUCOMM)Wtsi HET Early adult 9.68×10-06
decreased prepulse inhibition Hoxa2tm1b(EUCOMM)Wtsi HET Early adult 6.05×10-10
preweaning lethality, complete penetrance Hoxa2tm1b(EUCOMM)Wtsi HOM   Early adult 7.54×10-06
decreased circulating creatinine level Hoxa2tm1b(EUCOMM)Wtsi HET   Early adult 7.91×10-05
abnormal auditory brainstem response Hoxa2tm1b(EUCOMM)Wtsi HET   Early adult 5.48×10-06
abnormal snout morphology Hoxa2tm1b(EUCOMM)Wtsi HET   Early adult 5.11×10-05
improved glucose tolerance Hoxa2tm1b(EUCOMM)Wtsi HET   Early adult 6.82×10-05

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Lateral Orientation

5 Images

X-ray

XRay Images Whole Body Dorso Ventral

5 Images

Human diseases caused by Hoxa2 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 Hoxa2 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Hoxa2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Progressive, With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment OMIM:601449
Progressive Deafness With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment ORPHA:3235
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the middle ear ossicles, Abnormality of the malleus, Conductive hearing impairment... OMIM:128980
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy
Conductive hearing impairment, Abnormality of the stapes, Facial paralysis, External ear malforma... OMIM:124490
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the antihelix, Conductive hearing impairment, Hypoplasia of the antihelix, Aplasia... ORPHA:3232
Deafness, X-Linked 2
Progressive sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Mi... OMIM:304400
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Conductive Deafness-Malformed External Ear Syndrome
Abnormality of the middle ear ossicles, Overfolded helix, Conductive hearing impairment, Abnormal... ORPHA:3216
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormality of the pinna, ... OMIM:221300
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Deafness-Hypogonadism Syndrome
Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct, Abnormality of the midd... ORPHA:90646
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the antihelix, Large earlobe, Absent tragus, Overfolded helix, Conductive hearing ... ORPHA:79113
Branchiootic Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Morphological abnormality ... ORPHA:52429
Trisomy 8Q
Camptodactyly of finger, Myelomeningocele, Low-set, posteriorly rotated ears, Everted lower lip v... ORPHA:1752
Symphalangism, Proximal, 1A
Tarsal synostosis, Distal symphalangism of hands, Stapes ankylosis, Conductive hearing impairment... OMIM:185800
Glossopharyngeal Neuralgia
Tongue pain, Mandibular pain, Malnutrition, Feeding difficulties, Abnormal palate morphology, Cra... ORPHA:221098
Otosclerosis 7
Otosclerosis, Abnormality of the acoustic reflex, Conductive hearing impairment, Hearing impairme... OMIM:611572
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Auriculocondylar Syndrome 3
Bilateral conductive hearing impairment, Question mark ear, Stenosis of the external auditory can... OMIM:615706
Mohr Syndrome
Accessory oral frenulum, Agenesis of central incisor, Tongue nodules, Conductive hearing impairme... OMIM:252100
Deafness-Craniofacial Syndrome
Short philtrum, Abnormal palate morphology, Abnormality of the dentition, Short lingual frenulum,... ORPHA:3241
Orofaciodigital Syndrome Iii
Tongue nodules, Low-set ears, Bifid tongue, Supernumerary tooth, Bifid uvula, Microdontia OMIM:258850
Deafness, Autosomal Recessive 109
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Auriculocondylar Syndrome 2
Narrow mouth, Dental crowding, Overfolding of the superior helices, Mandibular condyle aplasia, A... OMIM:614669
Otosclerosis 10
Otosclerosis OMIM:615589
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Easily subluxated first metacarpophalangeal joints, Glossoptosis, Cleft pa... OMIM:311895
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Conductive hearing impairment, Proximal/middle symphalangism of 5th finger, Fus... OMIM:184460
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Impaired glucose tolerance, Hearing impairment, Optic atrophy, Diabetes mell... OMIM:614296
Cleft Velum
Conductive hearing impairment, Recurrent otitis media, Oral-pharyngeal dysphagia, Nasal regurgita... ORPHA:99772
Pierre Robin Syndrome
Pierre-Robin sequence, Micrognathia, Glossoptosis, Cleft palate OMIM:261800
Robinow Syndrome, Autosomal Recessive 1
Long philtrum, Macroglossia, Wide anterior fontanel, Short nose, Dental crowding, Umbilical herni... OMIM:268310
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Accessory oral frenulum, Abnormality of the philtrum, Agenesis of canine, Agan... ORPHA:2919
Neu-Laxova Syndrome 2
Abnormality of the pinna, Low-set ears, Cleft palate, High palate, Micrognathia OMIM:616038
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Holzgreve Syndrome
Macrotia, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Aplasia/Hypoplasia... ORPHA:2167
Schinzel-Giedion Syndrome
Camptodactyly, Abnormality of the stapes, Abnormality of the helix, High palate, Micrognathia, Ma... ORPHA:798
Bilateral Polymicrogyria
Pseudobulbar paralysis, Facial diplegia, Drooling, Feeding difficulties, Difficulty in tongue mov... ORPHA:268940
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Orofaciodigital Syndrome I
Enamel hypoplasia, Carious teeth, Agenesis of permanent teeth, Underdeveloped nasal alae, Tongue ... OMIM:311200
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Bor Syndrome
Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Enlarged cochlear aqueduct, At... ORPHA:107
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Atresia of the external auditory canal, Aplasia/Hypoplasia of the ... OMIM:108760
Microtia
Anotia, Hypoplastic helices, Holoprosencephaly, Atresia of the external auditory canal, Abnormali... ORPHA:83463
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Macrotia, Microretrognathia, Natal tooth, Cerebellar hypoplasia, Pulmonary hypoplasia, Anal atres... OMIM:616300
Robinow Syndrome, Autosomal Dominant 1
Narrow palate, Downturned corners of mouth, Dental crowding, Oral cleft, Triangular mouth, High p... OMIM:180700
Isolated Pierre Robin Syndrome
Micrognathia, Glossoptosis, Cleft palate ORPHA:718
Oculoauriculovertebral Spectrum With Radial Defects
EMG: myopathic abnormalities, Abnormality of the middle ear ossicles, Conductive hearing impairme... ORPHA:2549
Frontorhiny
Camptodactyly of finger, Midline nasal groove, Low-set, posteriorly rotated ears, Hypoplastic fro... ORPHA:391474
Geographic And Fissured Tongue
Furrowed tongue, Geographic tongue OMIM:137400
Periventricular Nodular Heterotopia 7
Flexion contracture, Hearing impairment, Optic atrophy, Cleft palate, Micrognathia OMIM:617201
Branchiogenic-Deafness Syndrome
Abnormality of the middle ear ossicles, Atresia of the external auditory canal, Trismus, Sensorin... OMIM:609166
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Thin upper lip vermilion, Low-set, posteriorly rotated ears, Micrognathia, Cleft palate ORPHA:2015
Lethal Congenital Contracture Syndrome 3
Neonatal death, Arthrogryposis multiplex congenita, Multiple joint contractures, Skeletal muscle ... OMIM:611369
Branchiogenic Deafness Syndrome
Abnormality of the middle ear ossicles, Aplasia/Hypoplasia of the inner ear, Overfolded helix, Co... ORPHA:50815
Smith-Magenis Syndrome
Mandibular prognathia, Morphological abnormality of the middle ear, Abnormality of the larynx, Ab... OMIM:182290
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Open bite, Branchial anomaly, Underdeveloped nasal alae, Open mouth, Downturned corners of mouth,... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Open bite, Branchial anomaly, Underdeveloped nasal alae, Open mouth, Downturned corners of mouth,... ORPHA:352665
Orofaciodigital Syndrome Xiv
Microretrognathia, Holoprosencephaly, Natal tooth, Cerebellar hypoplasia, Abnormality of the pinn... OMIM:615948
Microtia With Meatal Atresia And Conductive Deafness
Anotia, Aplasia/Hypoplasia of the middle ear, Conductive hearing impairment, Wide mouth, Microtia OMIM:251800
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal dental enamel morphology, Aplasia/Hypoplasia of the middle ear, Conductive hearing impai... ORPHA:3236
Robin Sequence-Oligodactyly Syndrome
Micrognathia, Glossoptosis, Abnormality of the dentition, Cleft palate ORPHA:3104
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Bifid tongue, Micrognathia, Intestinal malrotation, Bilateral cleft lip and palate ORPHA:2001
Orofaciodigital Syndrome Type 2
Hypoplasia of teeth, Tongue nodules, Natal tooth, Hamartoma of tongue, High palate, Micrognathia,... ORPHA:2751
Tick-Borne Encephalitis
Abnormal cranial nerve morphology, Vertigo, Dysphagia, Nausea, Abnormal autonomic nervous system ... ORPHA:297
Acrocraniofacial Dysostosis
Abnormality of the incus, Abnormality of the middle ear ossicles, Short philtrum, Abnormality of ... ORPHA:949
Auriculocondylar Syndrome 1
Narrow mouth, Dental crowding, Overfolding of the superior helices, Mandibular condyle aplasia, L... OMIM:602483
Multiple Synostoses Syndrome 1
Short philtrum, Underdeveloped nasal alae, Stapes ankylosis, Thick upper lip vermilion, Thin uppe... OMIM:186500
Congenital Velopharyngeal Incompetence
Hearing impairment, Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Catel-Manzke Syndrome
Camptodactyly of finger, Low-set, posteriorly rotated ears, Chronic otitis media, Cleft palate, G... ORPHA:1388
Multiple Synostoses Syndrome 4
Otosclerosis, Tarsal synostosis OMIM:617898
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Autosomal Recessive Robinow Syndrome
Open bite, Downturned corners of mouth, Death in infancy, Oral cleft, Exaggerated cupid's bow, Mi... ORPHA:1507
Weaver-Williams Syndrome
Protruding ear, Narrow mouth, Cleft palate ORPHA:3448
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Cochlear aplasia, Morphological abnormality of the semicircul... OMIM:619274
Robinow Syndrome, Autosomal Dominant 3
Long philtrum, Short nose, Downturned corners of mouth, Agenesis of permanent teeth, Camptodactyl... OMIM:616894
Robinow Syndrome
Dental crowding, Oral cleft, Triangular mouth, Micrognathia, Depressed nasal bridge, Long philtru... ORPHA:97360
Melkersson-Rosenthal Syndrome
Furrowed tongue, Facial palsy OMIM:155900
Treacher Collins Syndrome 3
Conductive hearing impairment, Abnormality of the outer ear, Cleft palate, Micrognathia, Microtia OMIM:248390
Cleft Palate, Deafness, And Oligodontia
Bilateral conductive hearing impairment, Cleft soft palate, Oligodontia of primary teeth, No perm... OMIM:216300
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Cleft Lip/Palate
Agenesis of lateral incisor, Malnutrition, Bilateral cleft palate, Abnormal number of permanent t... ORPHA:199306
Smith-Lemli-Opitz Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormal dental enamel morphology, Choanal atresia, Sensori... ORPHA:818
Temple Syndrome
Short philtrum, Recurrent otitis media, Flexion contracture, Posteriorly rotated ears, Cleft pala... OMIM:616222
Cleft Lip With Or Without Cleft Palate
Non-midline cleft palate, Recurrent otitis media, Non-midline cleft lip, Hearing impairment, Subm... ORPHA:1991
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Long philtrum, Sensorineural hearing impairment, Glossoptosis, Cleft palate, Micrognathia, Osteoa... ORPHA:166100
Autosomal Dominant Robinow Syndrome
Open bite, Oligodontia, Downturned corners of mouth, High, narrow palate, Micrognathia, Wide nose... ORPHA:3107
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Death in infancy, Cleft palate OMIM:258320
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Dysphagia, Facial palsy, Velopharyngeal insufficiency OMIM:617732
Fraser Syndrome
Underdeveloped nasal alae, Dental crowding, Atresia of the external auditory canal, Death in infa... ORPHA:2052
Isotretinoin Embryopathy-Like Syndrome
Anotia, Microtia, Cleft palate OMIM:243440
Xq21 Microdeletion Syndrome
Stapes ankylosis, Conductive hearing impairment, Sensorineural hearing impairment, Bilateral sens... ORPHA:1435
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Dysphagia, Nasogastric tube feeding in infancy, Abnorma... ORPHA:90117
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Microtia, Hearing Impairment, And Cleft Palate
Overfolded helix, Stenosis of the external auditory canal, Mixed hearing impairment, Cleft palate... OMIM:612290
Robinow Syndrome, Autosomal Dominant 2
Long philtrum, Short nose, Dental crowding, Conductive hearing impairment, Abnormality of the den... OMIM:616331
Aase-Smith Syndrome
Camptodactyly of finger, Abnormality of the pinna, Trismus, Multiple joint contractures, Cleft pa... ORPHA:916
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Abnormal motor evoked potentials, Ataxia, Abnormal auditory evoked potentials... ORPHA:320401
Spastic Paraplegia 81, Autosomal Recessive
Bifid uvula, Optic atrophy, Sensorineural hearing impairment, Cleft palate OMIM:618768
Abruzzo-Erickson Syndrome
Hearing impairment, Protruding ear, Macrotia, Cleft palate OMIM:302905
Isolated Cleft Lip
Conductive hearing impairment, Chronic otitis media, Macrodontia, Non-midline cleft lip, Hypodont... ORPHA:199302
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Conductive hearing impairment, Atresia of the external auditory canal, Chronic otitis media OMIM:221320
Hemifacial Microsomia With Radial Defects
Conductive hearing impairment, Atresia of the external auditory canal, Non-midline cleft lip, Ora... OMIM:141400
Branchiootic Syndrome 1
Hypoplasia of the cochlea, Cochlear malformation, Low-set ears, Cupped ear, Sensorineural hearing... OMIM:602588
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Conductive hearing impairment, Bifid uvula ORPHA:2669
Microtia-Anotia
Anotia, Holoprosencephaly, Microtia OMIM:600674
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia ORPHA:99852
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Abnorm... OMIM:601596
Lateral Meningocele Syndrome
Abnormality of the middle ear ossicles, Dental crowding, Conductive hearing impairment, Atresia o... ORPHA:2789
Treacher Collins Syndrome 2
Conductive hearing impairment, Micrognathia, Microtia, Cleft palate OMIM:613717
Lateral Meningocele Syndrome
Long philtrum, Abnormality of the middle ear ossicles, Dental crowding, Conductive hearing impair... OMIM:130720
Auriculocondylar Syndrome
Narrow mouth, Dental crowding, Mandibular condyle aplasia, Hamartoma of tongue, Question mark ear... ORPHA:137888
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid uvula, Hearing impairment OMIM:256200
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Branchiootorenal Syndrome 1
Hypoplasia of the cochlea, Branchial cyst, Conductive hearing impairment, Branchial fistula, Inte... OMIM:113650
X-Linked Intellectual Disability, Abidi Type
Hearing impairment, Protruding ear, Non-midline cleft lip, Cleft palate ORPHA:85273
Orofaciodigital Syndrome Type 14
Accessory oral frenulum, Bulbous nose, Microretrognathia, Low-set, posteriorly rotated ears, Hama... ORPHA:434179
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Everted lower lip vermilion, Tented upper lip vermilion, Posteriorly rotated ears... OMIM:616898
Chromosome 22Q11.2 Duplication Syndrome
Low-set ears, High palate, Abnormality of the pinna, Velopharyngeal insufficiency OMIM:608363
Pendred Syndrome
Cochlear malformation, Vestibular dysfunction, Congenital sensorineural hearing impairment OMIM:274600
Orofacial Cleft 13
Cleft soft palate, Oligodontia OMIM:613857
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Short mandibular rami, Dental malocclusion, Microtia, Tongue atrophy OMIM:141300
Split-Hand/Foot Malformation 3
Narrow mouth, Microretrognathia, Camptodactyly, Abnormality of the pinna, Cleft palate, High pala... OMIM:246560
Adducted Thumbs Syndrome
Arthrogryposis multiplex congenita, Dysphagia, High, narrow palate, Cleft palate, High palate, My... OMIM:201550
Arthrogryposis, Distal, Type 1C
Pursed lips, Camptodactyly of finger, Thin vermilion border, Narrow mouth, Camptodactyly of toe, ... OMIM:619110
Agnathia-Otocephaly Complex
Mandibular aplasia, Narrow mouth, Aglossia, Laryngeal hypoplasia, Conductive hearing impairment, ... OMIM:202650
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Gait disturbance, Ataxia, Abnormal auditory evoked ... OMIM:125250
Facioscapulohumeral Muscular Dystrophy 1
Shoulder girdle muscle atrophy, Scapular winging, Dysphagia, Shoulder girdle muscle weakness, Sen... OMIM:158900
Cleft Palate-Large Ears-Small Head Syndrome
Macrotia, Protruding ear, Gingival overgrowth, Cleft palate, Skeletal muscle atrophy, Micrognathia ORPHA:2013
Burn-Mckeown Syndrome
Thin vermilion border, Short philtrum, Narrow mouth, Hypomimic face, Underdeveloped nasal alae, C... OMIM:608572
Uvula, Bifid
Bifid uvula OMIM:192100
Cleft Soft Palate
Cleft soft palate OMIM:119570
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Dentinogenesis imperfecta, Hearing impairment OMIM:166220
Orofaciodigital Syndrome Vi
Tongue nodules, Conductive hearing impairment, Cerebellar vermis hypoplasia, Low-set ears, Poster... OMIM:277170
Catifa Syndrome
Delayed eruption of teeth, Long philtrum, Tooth malposition, Camptodactyly, Increased overbite, C... OMIM:618761
Van Der Woude Syndrome 1
Hypodontia, Cleft upper lip, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hamartoma of tongue, Intestinal malrotation, Anal atresia, Bifid tongue, Cleft upper lip, Cleft p... OMIM:613091
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Thin vermilion border, Overfolded helix, Low-set, posteriorly rotated ea... ORPHA:2631
Treacher Collins Syndrome 4
Conductive hearing impairment, Micrognathia, Cleft palate OMIM:618939
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome
Hearing impairment, Atresia of the external auditory canal ORPHA:3023
Aural Atresia, Congenital
Conductive hearing impairment, Atresia of the external auditory canal OMIM:607842
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Mandibulofacial Dysostosis With Alopecia
Delayed eruption of primary teeth, Dental crowding, Conductive hearing impairment, Everted lower ... OMIM:616367
Split-Foot Deformity With Mandibulofacial Dysostosis
Micrognathia, Abnormality of the ear, Cleft palate OMIM:183700
Deafness, Autosomal Dominant 9
Vertigo, Cochlear degeneration, Tinnitus, Postlingual sensorineural hearing impairment OMIM:601369
Cardiocranial Syndrome, Pfeiffer Type
Small hypothenar eminence, Temporomandibular joint ankylosis, Low-set, posteriorly rotated ears, ... ORPHA:2872
Isotretinoin-Like Syndrome
Anotia, Abnormality of the pulmonary veins, Thin anteverted nares, Aplasia/Hypoplasia of the inne... ORPHA:2306
Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome
Macroglossia, Short philtrum, Bilateral external ear deformity, Dysphagia, Wide mouth, Knee flexi... ORPHA:280384
Zechi-Ceide Syndrome
Thin vermilion border, Oligodontia, Short philtrum, Downturned corners of mouth, Conductive heari... ORPHA:217017
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Gait disturbance, Abnormal auditory evoked potentials, Decreased nerve conduc... OMIM:601455
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertriglyceridemia, Diab... OMIM:610947
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Upper limb amyotrophy, Knee flexion contracture, Lower l... ORPHA:496689
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Anotia, Conductive hearing impairment, Camptodactyly, Atresia of the external auditory canal, Ste... OMIM:608257
Osteogenesis Imperfecta, Type I
Otosclerosis, Dentinogenesis imperfecta, Hearing impairment OMIM:166200
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Anteverted ears, Microtia, first degree, Profound sensorineural hearing impairment, Conical tooth... OMIM:610706
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Mandibular aplasia, Aplasia/Hypoplasia of the cerebellum, Abnormal cranial nerve morphology, Narr... ORPHA:990
Coffin-Siris Syndrome 11
Uplifted earlobe, Downturned corners of mouth, Wide mouth, Esophageal atresia, Bifid uvula, High ... OMIM:618779
Hemifacial Microsomia
Anotia, Hypoplasia of facial musculature, Unilateral external ear deformity, Branchial anomaly, C... OMIM:164210
Orofaciodigital Syndrome V
Aganglionic megacolon, Lobulated tongue, Cleft palate, Bifid uvula, Median cleft lip OMIM:174300
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Hypoplasia of the brainstem, Thin vermilion border, Arthrogryposis multiplex congenita, Short phi... OMIM:618622
Childhood Apraxia Of Speech
High, narrow palate, Overfolded helix, Drooling, Submucous cleft hard palate ORPHA:209908
Distal Monosomy 15Q
Short philtrum, Abnormality of the dentition, Low-set ears, Thin upper lip vermilion, Hearing imp... ORPHA:1596
Cataract-Intellectual Disability-Hypogonadism Syndrome
Abnormality of the antihelix, Short philtrum, Tooth malposition, Low-set, posteriorly rotated ear... ORPHA:1387
Lambotte Syndrome
Semilobar holoprosencephaly, Atresia of the external auditory canal, Macrotia OMIM:245552
Trisomy 8P
Abnormal lung lobation, Thin vermilion border, Malrotation of small bowel, Short nose, Recurrent ... ORPHA:264450
Hypomandibular Faciocranial Dysostosis
Pursed lips, Aglossia, Coronal craniosynostosis, Micrognathia, Hypoplasia of the maxilla OMIM:241310
Otofaciocervical Syndrome
Abnormality of the antihelix, Macrotia, Conductive hearing impairment, Atresia of the external au... ORPHA:2792
Whistling Face Syndrome, Recessive Form
Long philtrum, Narrow mouth, Camptodactyly, Trismus, Microglossia, Knee flexion contracture, Shou... OMIM:277720
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Crouzon Disease
Narrow palate, Narrow internal auditory canal, Conductive hearing impairment, Cerebellar hypoplas... ORPHA:207
Autosomal Recessive Centronuclear Myopathy
Scapular winging, Narrow mouth, High palate, Centrally nucleated skeletal muscle fibers, Type 1 m... ORPHA:169186
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Chand Syndrome
Commissural lip pit, Agenesis of permanent teeth, Agenesis of maxillary incisor, Bifid tongue, Cl... ORPHA:1401
17Q24.2 Microdeletion Syndrome
Otosclerosis, Short philtrum, Tooth malposition, Recurrent otitis media, Wide nasal bridge, Thin ... ORPHA:529962
Mohr-Tranebjaerg Syndrome
Inability to walk, Dystonia, Attention deficit hyperactivity disorder, Postlingual sensorineural ... ORPHA:52368
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Conductive hearing impairment, High, narrow palate, Wide nasal bridge,... ORPHA:2780
Usher Syndrome Type 1
Abnormal dental enamel morphology, Sensorineural hearing impairment, Abnormal cochlea morphology,... ORPHA:231169
Dextrocardia With Unusual Facies And Microphthalmia
Micrognathia, Macrotia, Cleft palate OMIM:221950
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Atresia of the external auditory canal OMIM:209770
Tetraamelia Syndrome 2
Ankyloglossia, Microretrognathia, Low-set ears, Glossoptosis, Micrognathia, Bilateral cleft lip OMIM:618021
Peroxisome Biogenesis Disorder 8A (Zellweger)
Death in infancy, Glossoptosis OMIM:614876
Acrofacial Dysostosis, Cincinnati Type
Anotia, Macrotia, Choanal atresia, Cleft palate, Retrognathia, Micrognathia, Microtia, Hypoplasia... OMIM:616462
Satb2-Associated Syndrome Due To A Pathogenic Variant
Long philtrum, Drooling, Dysphagia, Smooth philtrum, Abnormality of the dentition, Thin upper lip... ORPHA:576283
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Bilateral conductive hearing impairment, Atresia of the external auditory canal, Oligodontia of p... ORPHA:2010
Klippel-Feil Syndrome 2, Autosomal Recessive
Conductive hearing impairment, Abnormality of the pinna, Sensorineural hearing impairment, Cleft ... OMIM:214300
Opticocochleodentate Degeneration
Hearing impairment, Cochlear degeneration OMIM:258700
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Atresia of the external auditory canal, Wide anterior fontanel OMIM:601356
Coxoauricular Syndrome
Hearing impairment, Atresia of the external auditory canal, Microtia ORPHA:1508
Oculoauriculofrontonasal Syndrome
Narrow mouth, Conductive hearing impairment, Cleft lip, Cleft palate, Broad philtrum, Micrognathi... ORPHA:398156
Mycophenolate Mofetil Embryopathy
Anotia, Atresia of the external auditory canal, Tracheomalacia, Oral cleft, Hearing impairment, C... ORPHA:268249
Hydrolethalus
Low-set, posteriorly rotated ears, Arrhinencephaly, Tracheal atresia, Anencephaly, Laryngomalacia... ORPHA:2189
Rosselli-Gulienetti Syndrome
Abnormality of the philtrum, Anteverted ears, Anodontia, Hypodontia, Cleft upper lip, Cleft palat... OMIM:225000
Hypertelorism-Microtia-Facial Clefting Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Microtia ORPHA:2213
Fraser Syndrome 1
Underdeveloped nasal alae, Dental crowding, Abnormality of the small intestine, Atresia of the ex... OMIM:219000
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Narrow mouth, Microretrognathia, Low-set, posteriorly rotated ears, Conductive... ORPHA:1307
Moebius Syndrome
Hypoplasia of the brainstem, Arthrogryposis multiplex congenita, Facial diplegia, Abnormal nasoph... OMIM:157900
Congenital Disorder Of Glycosylation, Type Id
Arthrogryposis multiplex congenita, Bulbous nose, Macrotia, Villous atrophy, Flexion contracture,... OMIM:601110
Emanuel Syndrome
Dental crowding, Submucous cleft lip, Broad jaw, Congenital diaphragmatic hernia, Arnold-Chiari m... ORPHA:96170
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Mucopolysaccharidosis Type 2
Otosclerosis, Macroglossia, Temporomandibular joint ankylosis, Recurrent upper respiratory tract ... ORPHA:580
Say Syndrome
Micrognathia, Macrotia, Cleft palate OMIM:181180
Vacterl With Hydrocephalus
Anotia, Spina bifida, Arrhinencephaly, Esophageal atresia, Abnormality of the outer ear, Aqueduct... ORPHA:3412
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Malnutrition, Abdominal pain, Constipation, Hearing impairment, Abdominal distention, Malabsorpti... OMIM:613662
Short Stature And Facioauriculothoracic Malformations
Overfolded helix, Low-set ears, Cupped ear, Cleft upper lip, Cleft palate, High palate, Microtia OMIM:609654
Isotretinoin Syndrome
Micrognathia, Microtia, Abnormality of the outer ear, Cleft palate ORPHA:2305
Mucopolysaccharidosis, Type Ix
Bifid uvula, Recurrent otitis media, Submucous cleft hard palate OMIM:601492
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Ataxia, Absent brainstem auditory responses, Sensorineural hearing im... ORPHA:1215
Brachycephaly, Trichomegaly, And Developmental Delay
Thin vermilion border, Open mouth, Overfolded helix, Conductive hearing impairment, Submucous cle... OMIM:617412
Poirier-Bienvenu Neurodevelopmental Syndrome
Downturned corners of mouth, Open mouth, Mandibular prognathia, Smooth philtrum, Protruding tongue OMIM:618732
Postaxial Acrofacial Dysostosis
Camptodactyly of finger, Conductive hearing impairment, Low-set, posteriorly rotated ears, Abnorm... ORPHA:246
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Conductive hearing impairment, Atresia of the external auditory canal OMIM:133705
Stickler Syndrome, Type Ii
Pierre-Robin sequence, Sensorineural hearing impairment, Cleft palate, Bifid uvula, High, narrow ... OMIM:604841
Developmental And Epileptic Encephalopathy 80
Uplifted earlobe, Long philtrum, Overfolded helix, Death in infancy, Abnormality of the pinna, Wi... OMIM:618580
Hypertelorism, Microtia, Facial Clefting Syndrome
Small thenar eminence, Narrow mouth, Conductive hearing impairment, Atresia of the external audit... OMIM:239800
Hypoglossia With Situs Inversus
Narrow mouth, Hypodontia, Low-set ears, Microglossia, High palate, Micrognathia OMIM:612776
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Hamel Cerebro-Palato-Cardiac Syndrome
Cupped ear, Micrognathia, Narrow mouth, Cleft palate ORPHA:93946
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the mouth, Abnormality of the philtrum, Overfolded helix, Choanal atresia, Aplasia... ORPHA:2759
Raine Syndrome
Enamel hypoplasia, Arthrogryposis multiplex congenita, Narrow mouth, Mandibular prognathia, Natal... OMIM:259775
Mucopolysaccharidosis Type 2, Severe Form
Otosclerosis, Camptodactyly of finger, Macroglossia, Temporomandibular joint ankylosis, Abnormali... ORPHA:217085
Hartnup Disorder
Glossitis OMIM:234500
Zimmermann-Laband Syndrome
Macroglossia, Gingival fibromatosis, Bulbous nose, Wide mouth, Hypodontia, Cleft palate, Anterior... ORPHA:3473
Mucopolysaccharidosis Type 2, Attenuated Form
Otosclerosis, Camptodactyly of finger, Macroglossia, Temporomandibular joint ankylosis, Abnormali... ORPHA:217093
Tarp Syndrome
Prominent antihelix, Tongue nodules, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Wide na... OMIM:311900
Epilepsy, Progressive Myoclonic, 9
Microglossia, Generalized amyotrophy OMIM:616540
Ear-Patella-Short Stature Syndrome
Anotia, Mandibular aplasia, Camptodactyly of finger, Narrow mouth, Atresia of the external audito... ORPHA:2554
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Bifid uvula, Cleft palate ORPHA:506353
Mitochondrial Neurogastrointestinal Encephalomyopathy
Gastrointestinal dysmotility, Decreased motor nerve conduction velocity, Decreased sensory nerve ... ORPHA:298
Apert Syndrome
Delayed eruption of teeth, Narrow palate, Conductive hearing impairment, Mandibular prognathia, C... ORPHA:87
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Facial hypotonia, Macrotia, Mandibular prognathia, Diastema, Lower limb hypertonia, Smooth philtr... OMIM:300534
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Macroglossia, Umbilical hernia, Protruding tongue, Sensorineural hearing impairment, Cleft palate... OMIM:612938
Split-Hand/Foot Malformation 1
Hearing impairment, Abnormality of the pinna, Cleft palate OMIM:183600
Catel-Manzke Syndrome
Camptodactyly, Abnormality of the pinna, Umbilical hernia, Low-set ears, Glossoptosis, Cleft uppe... OMIM:616145
Walker-Warburg Syndrome
Muscular dystrophy, Cerebellar hypoplasia, Low-set ears, Posteriorly rotated ears, Aplasia/Hypopl... ORPHA:899
Faciocardiomelic Dysplasia, Lethal
Narrow mouth, Neonatal death, Microglossia, Retrognathia, Micrognathia OMIM:227270
Burning Mouth Syndrome
Tongue pain, Parageusia, Xerostomia, Abnormality of the gingiva, Abnormality of taste sensation, ... ORPHA:353253
Cri-Du-Chat Syndrome
Short philtrum, Downturned corners of mouth, Thick lower lip vermilion, Microretrognathia, Gastro... OMIM:123450
Cooper-Jabs Syndrome
Conductive hearing impairment, Low-set, posteriorly rotated ears, Atresia of the external auditor... ORPHA:1488
Mucopolysaccharidosis Type 3
Sensorineural hearing impairment, Hydrocephalus, Otitis media, Abnormality of the middle ear ossi... ORPHA:581
Amish Lethal Microcephaly
Feeding difficulties, Death in infancy, Optic atrophy, Cleft soft palate, Micrognathia ORPHA:99742
Carey-Fineman-Ziter Syndrome
Hypoplasia of the brainstem, Pierre-Robin sequence, Dysphagia, Flexion contracture, Trismus, Pect... OMIM:254940
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Camptodactyly of finger, Submucous cleft hard palate, Cleft palate ORPHA:2521
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Short philtrum, Narrow mouth, Recurrent otitis media, Pyloric stenosis, Cleft palate, Bifid uvula... ORPHA:96184
Johnson Neuroectodermal Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Protruding ear, Facial pal... ORPHA:2316
Congenital Muscular Dystrophy With Intellectual Disability
Skeletal muscle hypertrophy, Hypoglycosylation of alpha-dystroglycan, Abnormality of the tongue m... ORPHA:370968
Osteopathia Striata With Cranial Sclerosis
Overfolded helix, Dental crowding, Camptodactyly, Natal tooth, Intestinal malrotation, Spina bifi... OMIM:300373
Johnson Neuroectodermal Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Protruding ear, Facial pal... OMIM:147770
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Glycosuria OMIM:614817
Congenital Sucrase-Isomaltase Deficiency
Vomiting, Abdominal colic, Diarrhea, Abdominal distention ORPHA:35122
Monosomy 9P
Anotia, Long philtrum, Abnormality of the antihelix, Short nose, Narrow mouth, Atresia of the ext... ORPHA:261112
Larsen-Like Syndrome
Wide anterior fontanel, Conductive hearing impairment, Recurrent otitis media, Low-set ears, Clef... OMIM:608545
Distal Monosomy 10Q
Inferior vermis hypoplasia, Spina bifida occulta, High palate, Micrognathia, Abnormality of the o... ORPHA:96148
Acrocephalopolydactyly
Protuberant abdomen, Abnormality of the mouth, Microtia ORPHA:221054
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Prominent antihelix, Thickened helices, Short philtrum, Bulbous nose, Smooth philtrum, Posteriorl... ORPHA:293725
Neu-Laxova Syndrome
Arthrogryposis multiplex congenita, Abnormality of the philtrum, Muscular dystrophy, Aplasia/Hypo... ORPHA:2671
Preeclampsia
Elevated circulating creatinine concentration, Type I diabetes mellitus ORPHA:275555
Verloove Vanhorick-Brubakk Syndrome
Atresia of the external auditory canal, Non-midline cleft lip, Low-set ears, Cleft palate, Microg... ORPHA:3429
Cerebrocostomandibular Syndrome
Spina bifida, Conductive hearing impairment, Micrognathia, Atresia of the external auditory canal... ORPHA:1393
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Sensorineural hearing impairment, Cleft lip, Cleft palate OMIM:612370
Hirschsprung Disease, Susceptibility To, 1
Constipation, Aganglionic megacolon, Abnormality of enteric ganglion morphology, Vomiting, Entero... OMIM:142623
Genitopalatocardiac Syndrome
Low-set ears, Micrognathia, Cleft upper lip, Cleft palate OMIM:231060
Zimmermann-Laband Syndrome 3
Flexion contracture, Gingival overgrowth, Bifid uvula, High palate, Thick lower lip vermilion OMIM:618658
Pallister-Hall-Like Syndrome
Death in infancy, Microglossia, Cleft palate, Hip dislocation, Micrognathia, Median cleft lip OMIM:241800
Cleidocranial Dysplasia
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Mandibula... ORPHA:1452
Solar Urticaria
Vertigo, Abnormal lip morphology, Abnormal tongue morphology ORPHA:97230
Beckwith-Wiedemann Syndrome
Otosclerosis, Macroglossia, Posterior helix pit, Diastasis recti, Wide anterior fontanel, Mandibu... ORPHA:116
Usher Syndrome Type 3
Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction ORPHA:231183
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Short philtrum, Decreased muscle mass, Dental crowding, Mandibular prognathia, Abnormality of the... OMIM:309583
Sweeney-Cox Syndrome
Short philtrum, Narrow mouth, Wide anterior fontanel, Overfolded helix, Low-set ears, Cupped ear,... OMIM:617746
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Camptodactyly of finger, Hypodontia, Glossoptosis, Joint dislocation, High, narrow palate, Abnorm... ORPHA:3201
Marshall-Smith Syndrome
Short nose, Open mouth, Conductive hearing impairment, Choanal atresia, Cerebellar hypoplasia, Pr... ORPHA:561
Treacher-Collins Syndrome
Open bite, Abnormal dental enamel morphology, Narrow mouth, Narrow internal auditory canal, Choan... ORPHA:861
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Short nose, Underdeveloped nasal alae, Low-set, posteriorly rotated ears, Meningocele, Protruding... ORPHA:2031
8Q22.1 Microdeletion Syndrome
Camptodactyly of finger, Abnormality of the antihelix, Long philtrum, Abnormality of the pinna, S... ORPHA:178303
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic activity, D... ORPHA:206443
Down Syndrome
Macroglossia, Narrow palate, Short nose, Narrow mouth, Open mouth, Conductive hearing impairment,... ORPHA:870
Schilbach-Rott Syndrome
Narrow mouth, Micrognathia, Submucous cleft hard palate, Posteriorly rotated ears, Bifid uvula, L... OMIM:164220
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Posteriorly placed tongue, Submucous cleft hard palate OMIM:192445
Benign Schwannoma
Abnormal cranial nerve morphology, Vertigo, Abnormality of peripheral nervous system electrophysi... ORPHA:252164
Chromosome 18Q Deletion Syndrome
Short philtrum, Downturned corners of mouth, Macrotia, Conductive hearing impairment, Atresia of ... OMIM:601808
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Bulbous nose, Wide nasal bridge, Hearing impairment, Cleft upper lip, Cleft palate, Bifid uvula, ... OMIM:300958
Cree Mental Retardation Syndrome
Low-set ears, Cleft soft palate, Posteriorly rotated ears, Micrognathia OMIM:606851
Bresek Syndrome
Aganglionic megacolon, Low-set ears, Hearing impairment, Neonatal death, Protruding ear, Optic ne... ORPHA:85284
Nager Syndrome
Low-set, posteriorly rotated ears, Abnormal palate morphology, Atresia of the external auditory c... ORPHA:245
Pendred Syndrome
Hypoplasia of the cochlea, Vertigo, Enlarged vestibular aqueduct, Sensorineural hearing impairmen... ORPHA:705
Rapp-Hodgkin Syndrome
Narrow mouth, Underdeveloped nasal alae, Hypoplasia of the maxilla, Small, conical teeth, Recurre... OMIM:129400
Meckel Syndrome, Type 8
Low-set ears, Abdominal distention, Cleft upper lip, Cleft palate OMIM:613885
Tetraploidy
Short philtrum, Micrognathia, Hypoplasia of the ear cartilage, Cleft palate ORPHA:3305
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Pyloric stenosis, Intestinal malrotation, Smooth philtrum, Intestinal pseudo-obstruction, Low-set... OMIM:300048
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Enamel hypoplasia, Tympanosclerosis, Malabsorption, Chronic atrophic gastritis OMIM:240300
Gorham-Stout Disease
Mandibular pain, Abnormality of the internal auditory canal, Pleural effusion, Abnormality of the... ORPHA:73
Buratti-Harel Syndrome
Laryngomalacia, Low-set ears, Posteriorly rotated ears, Velopharyngeal insufficiency, Recurrent p... OMIM:619314
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Macroglossia, Wide mouth, Bifid uvula, High palate, Microdontia, Widely spaced teeth, Accessory o... OMIM:266920
15Q Overgrowth Syndrome
Dental crowding, Microretrognathia, Low-set, posteriorly rotated ears, Mandibular prognathia, Hig... ORPHA:314585
Hypertrichosis-Acromegaloid Facial Appearance Syndrome
Everted lower lip vermilion, Thick vermilion border, Furrowed tongue, Gingival overgrowth, Oral s... ORPHA:966
Megalocornea-Mental Retardation Syndrome
Long philtrum, Dysphagia, Wide nasal bridge, Cupped ear, Bifid uvula, High palate, Large fleshy e... OMIM:249310
Acrootoocular Syndrome
Choking episodes, Conductive hearing impairment, Atresia of the external auditory canal, Low-set ... ORPHA:2980
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Bifid uvula, High palate, Median cleft lip OMIM:155145
Clark-Baraitser syndrome
Genu valgum, Genu recurvatum, Maxillary lateral incisor microdontia, Exaggerated median tongue fu... OMIM:300602
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Hyperplasia of the maxilla, Contractures of the joints of the lower limbs, Recurrent otitis media... ORPHA:513456
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Low-set ears, Posteriorly rotated ears, Optic nerve hypoplasia, Cleft upper lip, Cleft palate, Hi... OMIM:607597
Joubert Syndrome 1
Hypoplasia of the brainstem, Macroglossia, Brainstem dysplasia, Cerebellar vermis hypoplasia, Age... OMIM:213300
Lethal Kniest-Like Dysplasia
Abnormal cartilage matrix, Wide anterior fontanel, Abnormal cartilage morphology, Low-set ears, C... ORPHA:2347
Brown-Vialetto-Van Laere Syndrome 1
Dysphagia, Hand muscle atrophy, Abnormal cerebellum morphology, Sensorineural hearing impairment,... OMIM:211530
Orofaciodigital Syndrome Type 4
Choanal atresia, Oral cleft, Rectovaginal fistula, Abnormality of the ear, High, narrow palate, M... ORPHA:2753
Contractures-Developmental Delay-Pierre Robin Syndrome
Underdeveloped nasal alae, Overfolded helix, Abnormality of frontal sinus, Arnold-Chiari type I m... ORPHA:436003
Bifid Uvula
Bifid uvula, Submucous cleft soft palate, Cleft lip ORPHA:99771
Orofaciodigital Syndrome Iv
Tongue nodules, Hamartoma of tongue, Low-set ears, Lobulated tongue, Cleft palate, High palate, M... OMIM:258860
Birk-Barel Syndrome
Short philtrum, Dysphagia, Submucous cleft soft palate, Tented upper lip vermilion, Bifid uvula, ... OMIM:612292
Desmosterolosis
Anomalous pulmonary venous return, Short nose, Narrow mouth, Low-set, posteriorly rotated ears, I... ORPHA:35107
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Oligodontia, Long philtrum, Tooth malposition, Abnormal palate morphol... ORPHA:2712
Fetal Encasement Syndrome
Anotia, Mandibular aplasia, Bilateral trilobed lungs, Protruding tongue, Congenital diaphragmatic... OMIM:613630
Spinocerebellar Ataxia 36
Dysphagia, Hearing impairment, Cerebellar atrophy, Skeletal muscle atrophy, Tongue fasciculations... OMIM:614153
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Oligodontia, Short nose, Narrow mouth, Micrognathia, Pierre-Robin sequen... ORPHA:90652
Vertebral Hypersegmentation And Orofacial Anomalies
Thickened helices, Scapular winging, Unilateral cleft lip, Darwin tubercle of helix, Micrognathia... OMIM:619122
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Abdominal distention, Secretory diarrhea OMIM:616868
Coenzyme Q10 Deficiency, Primary, 8
Hearing impairment, Elevated circulating creatinine concentration OMIM:616733
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue, Facial palsy ORPHA:2743
Saethre-Chotzen Syndrome
Open bite, Abnormality of the antihelix, Narrow palate, Narrow internal auditory canal, Conductiv... ORPHA:794
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Bulbous nose, Macrotia, Overfolded helix, Mandibular prognathia, Everted lower lip vermilion, Smo... ORPHA:324410
Aase-Smith Syndrome I
Flexion contracture, Abnormality of the pinna, Open mouth, Cleft palate OMIM:147800
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Low-set, posteriorly rotated ears, Atresia of the external auditory canal, Umbilical hernia, Micr... ORPHA:1770
Kleefstra Syndrome 1
Macroglossia, Mandibular prognathia, Natal tooth, Everted lower lip vermilion, Abnormality of the... OMIM:610253
Atkin-Flaitz Syndrome
Genu valgum, Genu recurvatum, Maxillary lateral incisor microdontia, Exaggerated median tongue fu... OMIM:300431
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Carious teeth, Delayed ossification of carpal bones, Hearing impairment, Glossoptosis, Micrognathia ORPHA:93346
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Hyponatremia, Decreased serum creatinine OMIM:300539
Icf Syndrome
Macroglossia, Malabsorption, Recurrent respiratory infections, Umbilical hernia, Low-set ears, Pr... ORPHA:2268
Lethal Omphalocele-Cleft Palate Syndrome
Unilateral cleft lip, Cleft soft palate, Bifid uvula, Cleft palate ORPHA:2736
Anophthalmia Plus Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Bilateral cleft lip and pa... ORPHA:1104
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Conductive hearing impairment, Micrognathia, Cleft upper lip, Cleft palate OMIM:601076
Generalized Arterial Calcification Of Infancy
Stapes ankylosis, Conductive hearing impairment, Myocardial calcification, Hearing impairment, Se... ORPHA:51608
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Optic disc coloboma, Abnormality of the pinna, Low-set ears, Cupped ear, Hearing impairment, Sens... ORPHA:52055
Stickler Syndrome, Type I
Conductive hearing impairment, Pierre-Robin sequence, Submucous cleft hard palate, Sensorineural ... OMIM:108300
Opitz Gbbb Syndrome, Type Ii
Aplasia/Hypoplasia of the cerebellar vermis, High palate, Micrognathia, Depressed nasal bridge, A... OMIM:145410
Spinocerebellar Ataxia Type 36
Vertigo, Dysphagia, Hearing impairment, Loss of Purkinje cells in the cerebellar vermis, Skeletal... ORPHA:276198
Apert Syndrome
Delayed eruption of teeth, Anomalous tracheal cartilage, Narrow palate, Mandibular prognathia, Ch... OMIM:101200
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Hypoplasia of the tooth germ, Feeding difficulties, Bifid uvula, Protruding ear, Abnormality of t... ORPHA:293967
Myopathy, Myofibrillar, 7
Type 2 muscle fiber predominance, Flexion contracture, Tongue atrophy, Increased Z-disc width, Ac... OMIM:617114
Otospondylomegaepiphyseal Dysplasia
Posteriorly rotated ears, Sensorineural hearing impairment, Glossoptosis, Cleft palate, Bifid uvu... ORPHA:1427
Charcot-Marie-Tooth Disease Type 1F
Hand muscle weakness, Flexion contracture of finger, Scapular winging, Proximal lower limb amyotr... ORPHA:101085
Kleefstra Syndrome 2
Bifid uvula, Everted lower lip vermilion OMIM:617768
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Moebius Syndrome
Arthrogryposis multiplex congenita, Open mouth, Dysphagia, Everted lower lip vermilion, Death in ... ORPHA:570
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Narrow mouth, Overfolded helix, Conductive hearing impairment, Dental ... OMIM:300990
Dubowitz Syndrome
Delayed eruption of teeth, Abnormality of the antihelix, Wide anterior fontanel, Anal stenosis, L... ORPHA:235
Puerto Rican Infant Hypotonia Syndrome
Long philtrum, Narrow palate, Drooling, Open mouth, Constipation, Chronic constipation, High pala... OMIM:600096
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Long philtrum, Contracture of the proximal interphalangeal joint of the 4th toe, Short nose, Wide... ORPHA:457279
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Abnormal cranial nerve morphology, Hypodontia, Hearing impairment, Sensorineural hearing impairme... ORPHA:90024
Diamond-Blackfan Anemia 10
Conductive hearing impairment, Atresia of the external auditory canal, Low-set ears, Posteriorly ... OMIM:613309
Ring Chromosome 22 Syndrome
Neurofibromas, Bulbous nose, Macrotia, Pleural effusion, Thick vermilion border, Protruding tongue ORPHA:1446
Congenital Disorder Of Glycosylation, Type Iie
Short nose, Narrow mouth, Abnormality of the pinna, Smooth philtrum, Thick vermilion border, Low-... OMIM:608779
Congenital Disorder Of Glycosylation, Type Iia
Thin vermilion border, Open mouth, Macrotia, Everted lower lip vermilion, Diastema, Wide mouth, A... OMIM:212066
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Pseudopapilledema, Hearing impairment, Atresia of the external auditory canal, Low-set ears OMIM:264475
Congenital Pancreatic Cyst
Vomiting, Anorexia, Abdominal distention, Abdominal pain ORPHA:313906
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Long philtrum, Thin vermilion border, Low-set ears, Posteriorly rotated ears, Bifid uvula, Microg... OMIM:241410
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Progressive sensorineural hearing impairment, Cochlear degeneration OMIM:172500
Branchiooculofacial Syndrome
Branchial anomaly, Overfolded helix, Pyloric stenosis, Sensorineural hearing impairment, Elbow fl... OMIM:113620
Thalidomide Embryopathy
Anotia, Hearing impairment, Abnormality of the outer ear ORPHA:3312
Pontocerebellar Hypoplasia, Type 1B
Flexion contracture, Hip dislocation, Skeletal muscle atrophy, Tongue fasciculations, Tongue atrophy OMIM:614678
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Spina bifida, Bilateral external ear deformity, Hydranencephaly, Microgl... ORPHA:2839
Diamond-Blackfan Anemia 11
Atresia of the external auditory canal, Stenosis of the external auditory canal OMIM:614900
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Long philtrum, Downturned corners of mouth, Deep philtrum, Intestinal malrotation, Smooth philtru... ORPHA:404440
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Long philtrum, Bulbous nose, Cerebellar hypoplasia, Choanal atresia, Smooth philtrum, Wide nasal ... OMIM:300968
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Short nose, Bronchiectasis, Malabsorption, Pneumonia, Low-set ears, Protruding tong... OMIM:242860
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Furrowed tongue, Camptodactyly of finger ORPHA:2928
Hyperphosphatasia-Intellectual Disability Syndrome
Thickened helices, Short philtrum, Bulbous nose, Downturned corners of mouth, Mandibular prognath... ORPHA:247262
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Conductive hearing impairment, Umbilical hernia, Mixed hearing impairment, Skeletal muscle atroph... OMIM:614557
Kniest Dysplasia
Conductive hearing impairment, Recurrent otitis media, Umbilical hernia, Tracheomalacia, Hip cont... OMIM:156550
Fontaine Progeroid Syndrome
Oligodontia, Narrow mouth, Mandibular prognathia, Death in infancy, High, narrow palate, Microgna... OMIM:612289
Colonic Atresia
Abdominal distention, Colonic atresia OMIM:303650
Orofaciodigital Syndrome Type 6
Midline notch of upper alveolar ridge, Tongue nodules, Conductive hearing impairment, Low-set, po... ORPHA:2754
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Gait disturbance, Ataxia, EEG abnormality, Broad-... ORPHA:206448
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Small earlobe, Oligodontia, Agenesis of central incisor, Bulbous nose, Underdeveloped nasal alae,... ORPHA:364577
Distal Monosomy 9P
Abnormality of the antihelix, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlob... ORPHA:1642
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Alobar holoprosencephaly, Median cleft lip, Low-set ears, Aplasia of... OMIM:301043
Down Syndrome
Macroglossia, Conductive hearing impairment, Aganglionic megacolon, Protruding tongue, Anal atres... OMIM:190685
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Hypoplasia of teeth, Recurrent otitis media, Abnormality of the outer ear, Hearing impairment, Cl... ORPHA:2728
Hypomandibular Faciocranial Dysostosis
Short nose, Narrow mouth, Laryngeal hypoplasia, Optic disc coloboma, Death in infancy, Aplasia/Hy... ORPHA:1790
Pai Syndrome
Bifid uvula, Abnormal oral frenulum morphology, Median cleft lip, Cleft palate ORPHA:1993
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Native American Myopathy
Arthrogryposis multiplex congenita, Downturned corners of mouth, Conductive hearing impairment, C... ORPHA:168572
Marshall-Smith Syndrome
Recurrent aspiration pneumonia, Prominence of the premaxilla, Short philtrum, Short nose, Overfol... OMIM:602535
Juvenile Sialidosis Type 2
Dysphagia, Umbilical hernia, Low-set ears, Protruding tongue, Hearing impairment, Gingival overgr... ORPHA:93399
Arthrogryposis, Distal, Type 5D
Arthrogryposis multiplex congenita, Decreased muscle mass, Camptodactyly, Furrowed tongue, Cleft ... OMIM:615065
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Long philtrum, Bifid epiglottis, Cerebellar hypoplasia, Esophageal atresia, Ectopic anus, Wide no... ORPHA:93271
Marden-Walker Syndrome
Camptodactyly of finger, Abnormal cerebellar vermis morphology, Arthrogryposis multiplex congenit... ORPHA:2461
Cardiofaciocutaneous Syndrome 1
Open bite, Bulbous nose, Open mouth, High palate, Micrognathia, Hydrocephalus, Depressed nasal br... OMIM:115150
Meckel Syndrome 12
Arthrogryposis multiplex congenita, Cerebellar hypoplasia, Wide nasal bridge, Low-set ears, Bifid... OMIM:616258
Limb-Mammary Syndrome
Camptodactyly, Hypodontia, Joint contracture of the hand, Cleft palate, Bifid uvula OMIM:603543
Atypical Pantothenate Kinase-Associated Neurodegeneration
Dysphagia, Optic atrophy, Tongue atrophy ORPHA:216873
Frontometaphyseal Dysplasia
Camptodactyly of finger, Oligodontia, Shoulder muscle hypoplasia, Conductive hearing impairment, ... ORPHA:1826
Loeys-Dietz Syndrome 5
Hiatus hernia, Scapular winging, Decreased muscle mass, Congenital finger flexion contractures, O... OMIM:615582
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Wide nasal bridge, Cleft palate, Cerebellar atrophy, Glossoptosis, Decreased nerve conduction vel... OMIM:618356
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Micrognathia, Glossoptosis, Sensorineural hearing impairment, Cleft palate ORPHA:440354
Cerebrocostomandibular Syndrome
Long philtrum, Anomalous tracheal cartilage, Anal stenosis, Conductive hearing impairment, Abnorm... OMIM:117650
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Macroglossia, Oligodontia, Branchial anomaly, Underdeveloped nasal alae, Open mouth, Pleural effu... ORPHA:453499
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Hand muscle weakness, Spinal muscular atrophy, Limb-girdle muscle atrophy, Distal lower limb amyo... ORPHA:466768
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Wide anterior fontanel, Absent nasal bridge, Laryngeal hypoplasia, Natal tooth, Hamartoma of tong... OMIM:617925
Mcdonough Syndrome
Short philtrum, Diastasis recti, Mandibular prognathia, Furrowed tongue, Dental malocclusion, Mic... OMIM:248950
Congenital Sialidosis Type 2
Respiratory tract infection, Umbilical hernia, Low-set ears, Protruding tongue, Hearing impairmen... ORPHA:93400
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Conductive hearing impairment, Atresia of the external auditory canal OMIM:602471
Treacher Collins Syndrome 1
Narrow mouth, Conductive hearing impairment, Hypoplasia of the pharynx, Atresia of the external a... OMIM:154500
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Enamel hypoplasia, Mandibular prognathia, Hypodontia, Low-set ears, Underfolded helix, Bifid uvul... OMIM:263540
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Prominent antihelix, Enamel hypoplasia, Macrotia, Cerebellar vermis hypoplasia, Wide mouth, Abnor... OMIM:615802
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Conductive hearing impairment, Subm... ORPHA:1071
Arthrogryposis, Distal, Type 3
Camptodactyly of finger, Arthrogryposis multiplex congenita, Decreased muscle mass, Camptodactyly... OMIM:114300
Tarp Syndrome
Prominent antihelix, Small earlobe, Abnormality of the antihelix, Abnormal duodenum morphology, T... ORPHA:2886
Temple Syndrome
Bifid uvula, Polyphagia ORPHA:254516
Cousin Syndrome
Camptodactyly, Cleft palate, Hydranencephaly, Microtia, first degree, Wrist flexion contracture, ... OMIM:260660
Cohen Syndrome
Short philtrum, Open mouth, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the tongue,... ORPHA:193
Athyreosis
Macroglossia, Constipation, Abdominal distention, Feeding difficulties ORPHA:95713
Facial Abnormalities, Kyphoscoliosis, And Mental Retardation
Protruding tongue, Macroglossia OMIM:227250
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Camptodactyly of finger, Delayed eruption of teeth, Thenar muscle atrophy, Hypodontia, Joint cont... OMIM:612350
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Long philtrum, Macroglossia, Dental crowding, Wide nasal bridge, Protruding tongue, High palate, ... OMIM:141750
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Orofaciodigital Syndrome Type 3
Bulbous nose, Cerebellar vermis hypoplasia, Hamartoma of tongue, Abnormality of the dentition, Ir... ORPHA:2752
Short-Rib Thoracic Dysplasia 12
Median cleft lip and palate, Holoprosencephaly, Natal tooth, Intestinal malrotation, Abnormality ... OMIM:269860
Adult-Onset Autosomal Dominant Leukodystrophy
Dysdiadochokinesis, Gait ataxia, Autonomic bladder dysfunction, Orthostatic hypotension, Gait dis... ORPHA:99027
Lipoid Proteinosis
Tongue nodules, Microglossia, Abnormal oral mucosa morphology, Abnormality of the gingiva, High p... ORPHA:530
Congenital Disorder Of Glycosylation, Type Ih
Long philtrum, Protein-losing enteropathy, Low-set ears, Decreased liver function, Diarrhea, Vomi... OMIM:608104
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Laryngotracheomalacia, Spinal dysraphism, Laryngeal web, Sensorineural hearing impairment, Cleft ... OMIM:617660
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Volvulus Of Midgut
Constipation, Intestinal malrotation, Volvulus, Abdominal distention, Neonatal intestinal obstruc... OMIM:193250
X-Linked Agammaglobulinemia
Abnormal lung morphology, Chronic otitis media, Sinusitis, Sensorineural hearing impairment, Glos... ORPHA:47
Crouzon Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Optic atrophy OMIM:123500
Carey-Fineman-Ziter Syndrome
Aplasia/Hypoplasia of the cerebellum, Thin vermilion border, Long philtrum, Short nose, Pierre-Ro... ORPHA:1358
Adiposis Dolorosa
Constipation, Abdominal distention OMIM:103200
Orofaciodigital Syndrome Xv
Lobulated tongue OMIM:617127
Mandibulofacial Dysostosis, Guion-Almeida Type
Overfolded helix, Conductive hearing impairment, Atresia of the external auditory canal, Low-set ... OMIM:610536
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatic failure, Death in infancy, Abdominal distention, Feeding difficulties OMIM:618528
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dystonia, Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Bulbous nose, Mandibular prognathia, Wide mouth, Submucous cleft hard palate, Low-set ears, Unila... OMIM:619103
Distal Monosomy 12Q
Long philtrum, Wide anterior fontanel, Bulbous nose, Anteverted nares, Pyloric stenosis, Esophage... ORPHA:96149
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Esophageal atresia, Facial hypotonia, Smooth philtrum OMIM:614526
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Choanal atresia, Esophageal atresia, Low-set ears, Duodenal atresia, Spina bifida occulta, Retrog... OMIM:619227
Atresia Of Small Intestine
Feeding difficulties, Intestinal malrotation, Jejunal atresia, Intestinal hypoplasia, Vomiting, A... ORPHA:1201
Leukocyte Adhesion Deficiency Type Ii
Small earlobe, Severe periodontitis, Narrow palate, Conductive hearing impairment, Recurrent otit... ORPHA:99843
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairment OMIM:201050
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Macroglossia, Short nose, Thick lower lip vermilion, Umbilical hernia, Low-set ears, Posteriorly ... OMIM:301040
Familial Visceral Myopathy
Low-set, posteriorly rotated ears, Aganglionic megacolon, Cleft palate, Micrognathia, Abdominal d... ORPHA:2604
Acro-Renal-Mandibular Syndrome
Short philtrum, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Oral cleft, ... ORPHA:958
Faciocardiorenal Syndrome
Narrow mouth, Smooth philtrum, Hypodontia, Protruding ear, Cleft palate ORPHA:1973
Branchioskeletogenital Syndrome
Carious teeth, Thin vermilion border, Short philtrum, Downturned corners of mouth, Mandibular pro... ORPHA:1299
Robin Sequence With Cleft Mandible And Limb Anomalies
Narrow mouth, Feeding difficulties, Microretrognathia, Cleft lower alveolar ridge, Pierre-Robin s... OMIM:268305
Tetrasomy 12P
Long philtrum, Delayed eruption of teeth, Abnormal soft palate morphology, Downturned corners of ... ORPHA:884
Steinfeld Syndrome
Median cleft lip and palate, Holoprosencephaly, Abnormality of the pinna, Aplasia of the nose, He... OMIM:184705
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Cochlear degeneration, Proximal amyotrophy, Spinocerebellar atrophy, Hearing impairment, Optic at... ORPHA:95433
Double Outlet Right Ventricle
Abnormality of cartilage of external ear, Narrow mouth, Intestinal malrotation, Submucous cleft h... ORPHA:3426
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural he... ORPHA:529808
Pallister-Hall Syndrome
Abnormal lung lobation, Bifid epiglottis, Short nose, Holoprosencephaly, Atresia of the external ... OMIM:146510
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural he... ORPHA:529799
Thyroid Hemiagenesis
Macroglossia, Constipation, Abdominal distention ORPHA:95719
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Carious teeth, Long philtrum, Hypoplasia of teeth, Wide anterior fonta... OMIM:607812
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration OMIM:607665
Camptodactyly Syndrome, Guadalajara, Type I
Small earlobe, Scapular winging, Short nose, Narrow mouth, Downturned corners of mouth, Overfoldi... OMIM:211910
Frontometaphyseal Dysplasia 2
Short philtrum, Decreased muscle mass, Conductive hearing impairment, Pierre-Robin sequence, Camp... OMIM:617137
Acrofacial Dysostosis 1, Nager Type
Laryngeal hypoplasia, Conductive hearing impairment, Atresia of the external auditory canal, Agan... OMIM:154400
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Hyperinsulinemia, Insulin resistance, Orthostatic hypotension, Ele... ORPHA:230
Kapur-Toriello Syndrome
Posteriorly rotated ears, Atresia of the external auditory canal, Low-set ears ORPHA:2328
Rabson-Mendenhall Syndrome
Macroglossia, Macrotia, Dental crowding, Mandibular prognathia, Abnormality of the dentition, Fur... ORPHA:769
Qazi-Markouizos Syndrome
Hypoplasia of teeth, Open mouth, Broad philtrum, Drooling, Chronic constipation, High, narrow pal... ORPHA:3010
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Wide mouth, Tracheomalacia, Laryngomalacia, Low-set ears, Protruding tongue, Gingival overgrowth,... OMIM:618797
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Macroglossia, Thin lower lip vermilion, Deep philtrum, Wide mouth, Attached earlobe, Low-set ears... OMIM:619194
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Bifid uvula, Submucous cleft hard palate OMIM:619239
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Long philtrum, Thickened helices, Underdeveloped nasal alae, Overfolded helix, Arnold-Chiari type... OMIM:617506
Developmental And Speech Delay Due To Sox5 Deficiency
Hyperplasia of the maxilla, Narrow palate, Dental crowding, Vertebral fusion, Exaggerated median ... ORPHA:313892
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly