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Gene: Gata3 MGI:95663

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
GATA binding protein 3
Synonyms:
Gata-3,  jal

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 Gata3 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 Gata3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Pseudopapilledema, Sensorineural hearing impairment OMIM:146255
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Progressive sensorineural hearing impairment, Cleft palate ORPHA:2237

The table below shows human diseases predicted to be associated to Gata3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Pili Gemini
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Ab... ORPHA:79492
Ringed Hair
Abnormal hair morphology OMIM:180600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Uncombable Hair Syndrome 2
Pili canaliculi, Uncombable hair OMIM:617251
Hypotrichosis 4
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair OMIM:146550
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca... OMIM:618013
Uncombable Hair Syndrome 3
Pili canaliculi, Brittle hair, Uncombable hair, Curly hair OMIM:617252
Deafness, Autosomal Dominant 85
Cochlear nerve hypoplasia, Sensorineural hearing impairment OMIM:620227
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair OMIM:616760
Deafness-Oligodontia Syndrome
Vertigo, Abnormality of the inner ear, Sensorineural hearing impairment ORPHA:3230
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... OMIM:609129
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Uncombable Hair Syndrome 1
Dry hair, Pili canaliculi, Uncombable hair OMIM:191480
Alopecia Universalis Congenita
Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair OMIM:203655
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Alopecia Areata 2
Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis OMIM:610753
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Alopecia Areata 1
Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits OMIM:104000
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Genu va... ORPHA:2972
Hypotrichosis Simplex
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair ORPHA:55654
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Deafness, Autosomal Recessive 25
Abnormal vestibular function, Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Hypotrichosis 11
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... OMIM:615059
Deafness, Autosomal Dominant 11
Vertigo, Abnormal vestibular function, Bilateral sensorineural hearing impairment OMIM:601317
Deafness, Autosomal Recessive 2
Vertigo, Abnormal vestibular function, Sensorineural hearing impairment OMIM:600060
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Deafness, Autosomal Dominant 87
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment OMIM:620281
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormal gastric mucosa morphology OMIM:175505
Ectodermal Dysplasia 6, Hair/Nail Type
Alopecia, Sparse hair, Thin toenail, Dystrophic toenail OMIM:614928
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Auriculocondylar Syndrome 4
Hearing impairment, Question mark ear, Micrognathia, Narrow mouth, Postauricular skin tag, Facial... OMIM:620457
Deafness, Autosomal Dominant 75
Abnormal cochlea morphology, Sensorineural hearing impairment OMIM:618778
Palmoplantar Keratoderma, Epidermolytic, 2
Curly hair OMIM:620411
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Abnormal vestibular function, Prelingual sensorineural heari... OMIM:616515
Deafness, Autosomal Recessive 67
Bilateral sensorineural hearing impairment, Abnormal vestibular function, Sensorineural hearing i... OMIM:610265
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Deafness, Autosomal Recessive 31
Absent vestibular function, Sensorineural hearing impairment OMIM:607084
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toenails,... ORPHA:2722
Graham Little-Piccardi-Lassueur Syndrome
Alopecia, Sparse axillary hair, Sparse pubic hair, Sparse scalp hair ORPHA:505
Deafness, Autosomal Recessive 89
Vestibular hypofunction, Sensorineural hearing impairment OMIM:613916
Deafness, Autosomal Recessive 84B
Vestibular hypofunction, Sensorineural hearing impairment OMIM:614944
Deafness, Autosomal Recessive 18B
Vestibular hypofunction, Sensorineural hearing impairment OMIM:614945
Deafness, Autosomal Recessive 94
Bilateral sensorineural hearing impairment, Abnormal vestibular function OMIM:618434
Deafness, Autosomal Recessive 117
Abnormal vestibular function, Sensorineural hearing impairment OMIM:619174
Deafness, Autosomal Dominant 56
Abnormal vestibular function, Sensorineural hearing impairment OMIM:615629
Deafness, Autosomal Dominant 66
Abnormal vestibular function, Sensorineural hearing impairment OMIM:616969
Deafness, Autosomal Dominant 81
Abnormal vestibular function, Sensorineural hearing impairment OMIM:619500
Deafness, Autosomal Recessive 7
Abnormal vestibular function, Sensorineural hearing impairment OMIM:600974
Deafness, Autosomal Dominant 40
Abnormal vestibular function, Sensorineural hearing impairment OMIM:616357
Deafness, Autosomal Dominant 74
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618140
Deafness, Autosomal Recessive 110
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618094
Deafness, Autosomal Recessive 1A
Abnormal vestibular function, Sensorineural hearing impairment OMIM:220290
Deafness, Autosomal Dominant 71
Abnormal vestibular function, Sensorineural hearing impairment OMIM:617605
Deafness, Autosomal Recessive 113
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618410
Deafness, Autosomal Recessive 99
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618481
Deafness, Autosomal Dominant 53
Abnormal vestibular function, Sensorineural hearing impairment OMIM:609965
Deafness, Autosomal Dominant 25
Abnormal vestibular function, Sensorineural hearing impairment OMIM:605583
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Bilateral conductive hearing impairment, Micrognathia, Absent stapes head, Abnormality of the mal... OMIM:128980
Auditory Neuropathy, Autosomal Dominant 2
Abnormal speech discrimination, Sensorineural hearing impairment OMIM:620384
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Abnormality of hair texture, Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the ey... ORPHA:2891
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Carious teeth, Conductive hearing impairment, Hypoplasia of the zygomatic bone, Micrognathia, Abn... ORPHA:3145
Otodental Syndrome
Abnormality of canine, Carious teeth, Periodontitis, Progressive sensorineural hearing impairment... ORPHA:2791
Cleft Lip/Palate
Hypoplasia of the maxilla, Conductive hearing impairment, Velopharyngeal insufficiency, Dental ma... ORPHA:199306
Deafness, Autosomal Recessive 30
Progressive sensorineural hearing impairment, Progressive hearing impairment OMIM:607101
Deafness, Autosomal Recessive 15
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Sensorineural hearing ... OMIM:601869
Deafness, Autosomal Recessive 35
Abnormal ear morphology, Sensorineural hearing impairment OMIM:608565
Deafness, Autosomal Recessive 100
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618422
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Auriculocondylar Syndrome 2A
Low-set ears, Mandibular condyle aplasia, Microglossia, Cleft at the superior portion of the pinn... OMIM:614669
Deafness, Autosomal Recessive 63
Abnormal vestibular function, Congenital sensorineural hearing impairment OMIM:611451
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
L-Ferritin Deficiency
Alopecia OMIM:615604
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Deafness, X-Linked 4
High-frequency hearing impairment, Sensorineural hearing impairment OMIM:300066
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Usher Syndrome, Type Ic
Congenital sensorineural hearing impairment, Vestibular hypofunction OMIM:276904
Deafness, Autosomal Recessive 20
Hearing impairment, Sensorineural hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Hearing impairment, Sensorineural hearing impairment OMIM:603098
Deafness, Autosomal Recessive 29
Hearing impairment, Sensorineural hearing impairment OMIM:614035
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Optic atrophy, Hypoplasia of the maxilla, Midface retrusion, Protruding ear, Smooth philtrum, Thi... OMIM:618737
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Candidiasis, Familial, 1
Alopecia OMIM:114580
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Hypopigmentation of the skin, Dystrophic toenail, Sparse body hair, Onychogryposis of t... OMIM:617294
Distal 17P13.1 Microdeletion Syndrome
Hypoplasia of the zygomatic bone, Retrognathia, Increased overbite, Protruding ear, Limited elbow... ORPHA:319171
Treacher Collins Syndrome 3
Conductive hearing impairment, Hypoplasia of the zygomatic bone, Micrognathia, Malar flattening, ... OMIM:248390
Parc Syndrome
Absent eyelashes, Alopecia, Absent eyebrow OMIM:600331
Arthrogryposis, Distal, Type 2E
Joint contracture of the hand, Absent antihelix, Micrognathia, Narrow mouth, Trismus OMIM:121070
Trichodysplasia-Xeroderma Syndrome
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P... ORPHA:3361
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Sensorineural hearing impairment,... OMIM:166750
Deafness, Autosomal Dominant 6
Low-frequency sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:600965
Deafness, Autosomal Dominant 20
Bilateral sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:604717
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
Thumb Deformity And Alopecia
Alopecia, Increased groin pigmentation with raindrop depigmentation OMIM:188150
Marie Unna Hereditary Hypotrichosis
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... ORPHA:444
Deafness, Autosomal Dominant 76
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618787
Monilethrix
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair OMIM:158000
Deafness, Autosomal Dominant 22
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:221745
Deafness, Autosomal Recessive 79
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:613307
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... ORPHA:79414
Deafness, Autosomal Dominant 4B
Abnormal vestibular function, Sensorineural hearing impairment OMIM:614614
Deafness, Autosomal Recessive 57
Abnormal vestibular function, Hearing impairment, Sensorineural hearing impairment OMIM:618003
Deafness, Autosomal Recessive 101
Bilateral sensorineural hearing impairment, Abnormal vestibular function OMIM:615837
Mandibulofacial Dysostosis With Alopecia
Low-set ears, Preauricular skin tag, Hypoplasia of the maxilla, Cupped ear, Conductive hearing im... OMIM:616367
Nager Syndrome
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Atresia of the external auditory can... ORPHA:245
Cleft Palate-Lateral Synechia Syndrome
Oral synechia, Micrognathia, Narrow mouth, Everted lower lip vermilion, Full cheeks, Cleft palate ORPHA:2016
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Mandibulofacial Dysostosis-Microcephaly Syndrome
Low-set ears, Abnormality of the outer ear, Absent tragus, Hypoplasia of the maxilla, Conductive ... ORPHA:79113
Split-Hand/Foot Malformation 3
Hypoplasia of the maxilla, Microretrognathia, Narrow mouth, High palate, Abnormal pinna morpholog... OMIM:246560
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
X-Linked Mandibulofacial Dysostosis
Webbed neck, Conductive hearing impairment, Hypoplasia of the zygomatic bone, Low-set, posteriorl... ORPHA:1131
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count OMIM:613495
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
T lymphocytopenia OMIM:242870
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Hair Defect With Photosensitivity And Impaired Intellectual Development
Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair OMIM:234030
Auriculocondylar Syndrome 1
Low-set ears, Mandibular condyle aplasia, Preauricular skin tag, Cupped ear, Cleft at the superio... OMIM:602483
Familial Median Cleft Of The Upper And Lower Lips
Cleft upper lip, Diastema, Abnormal mandible morphology, Irregular dentition, Cleft lower lip, Me... ORPHA:401942
Naxos Disease
Hyperhidrosis, Curly hair, Abnormality of hair texture, Woolly hair, Sparse scalp hair ORPHA:34217
Cleidocranial Dysplasia
Short face, Hypoplastic scapulae, Carious teeth, Hearing impairment, Open bite, Micrognathia, Gen... ORPHA:1452
Pili Torti
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of hair texture, Abn... ORPHA:2889
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Deafness, Autosomal Dominant 3B
Adult onset sensorineural hearing impairment OMIM:612643
Deafness, X-Linked 3
Congenital sensorineural hearing impairment OMIM:300030
Deafness, Autosomal Dominant 83
Bilateral sensorineural hearing impairment OMIM:619808
Deafness, Autosomal Dominant 31
Old-aged sensorineural hearing impairment OMIM:608645
Dentin Dysplasia, Type I
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Flat Face-Microstomia-Ear Anomaly Syndrome
Aplasia/Hypoplasia of the earlobes, High, narrow palate, Abnormal oral mucosa morphology, Flat fa... ORPHA:1968
Deafness, Autosomal Dominant 77
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment OMIM:618915
Deafness, Autosomal Recessive 119
Sensorineural hearing impairment OMIM:619615
Treacher-Collins Syndrome
Short face, Open bite, Micrognathia, Narrow mouth, Encephalocele, Abnormality of the middle ear, ... ORPHA:861
Cerebellar Ataxia And Neurosensory Deafness
Sensorineural hearing impairment OMIM:212850
Deafness, Autosomal Recessive 8
Sensorineural hearing impairment OMIM:601072
Deafness, Autosomal Recessive 26
Sensorineural hearing impairment OMIM:605428
Deafness, Autosomal Recessive 14
Sensorineural hearing impairment OMIM:603678
Deafness, Autosomal Recessive 27
Sensorineural hearing impairment OMIM:605818
Deafness, Autosomal Recessive 68
Sensorineural hearing impairment OMIM:610419
Deafness, Autosomal Recessive 21
Sensorineural hearing impairment OMIM:603629
Deafness, Autosomal Recessive 120
Sensorineural hearing impairment OMIM:620238
Deafness, Autosomal Dominant 59
Sensorineural hearing impairment OMIM:612642
Deafness, Autosomal Recessive 61
Sensorineural hearing impairment OMIM:613865
Deafness, Autosomal Recessive 112
Sensorineural hearing impairment OMIM:618257
Deafness, Autosomal Dominant 10
Sensorineural hearing impairment OMIM:601316
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Dominant 27
Sensorineural hearing impairment OMIM:612431
Intellectual Developmental Disorder, X-Linked 46
Sensorineural hearing impairment OMIM:300436
Deafness, Autosomal Recessive 53
Sensorineural hearing impairment OMIM:609706
Deafness, Autosomal Dominant 73
Sensorineural hearing impairment OMIM:617663
Deafness, Autosomal Recessive 17
Sensorineural hearing impairment OMIM:603010
Deafness, Autosomal Dominant 48
Sensorineural hearing impairment OMIM:607841
Deafness, Autosomal Dominant 37
Sensorineural hearing impairment OMIM:618533
Deafness, Autosomal Recessive 66
Sensorineural hearing impairment OMIM:610212
Deafness, Autosomal Recessive 5
Sensorineural hearing impairment OMIM:600792
Deafness, Autosomal Recessive 59
Sensorineural hearing impairment OMIM:610220
Deafness, Autosomal Recessive 22
Sensorineural hearing impairment OMIM:607039
Deafness, Autosomal Dominant 21
Sensorineural hearing impairment OMIM:607017
Deafness, Autosomal Dominant 68
Sensorineural hearing impairment OMIM:616707
Deafness, Autosomal Recessive 97
Sensorineural hearing impairment OMIM:616705
Deafness, Autosomal Recessive 42
Sensorineural hearing impairment OMIM:609646
Deafness, Neural, Congenital Moderate
Sensorineural hearing impairment OMIM:221500
Deafness, Autosomal Dominant 84
Sensorineural hearing impairment OMIM:619810
Deafness, X-Linked 1
Sensorineural hearing impairment OMIM:304500
Deafness, Autosomal Dominant 69
Sensorineural hearing impairment OMIM:616697
Neuropathy, Hereditary Motor And Sensory, With Deafness, Impaired Intellectual Development, And Absent Sensory Large Myelinated Fibers
Sensorineural hearing impairment OMIM:214370
Deafness, Autosomal Recessive 114
Sensorineural hearing impairment OMIM:618456
Deafness, Autosomal Recessive 115
Sensorineural hearing impairment OMIM:618457
Deafness, Y-Linked 2
Sensorineural hearing impairment OMIM:400047
Deafness, Autosomal Dominant 3A
Sensorineural hearing impairment OMIM:601544
Deafness, Autosomal Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Recessive 16
Sensorineural hearing impairment OMIM:603720
Deafness, Autosomal Recessive 98
Sensorineural hearing impairment OMIM:614861
Deafness, Autosomal Dominant 47
Sensorineural hearing impairment OMIM:608652
Deafness, Autosomal Dominant 28
Sensorineural hearing impairment OMIM:608641
Deafness, Autosomal Dominant 30
Sensorineural hearing impairment OMIM:606451
Deafness, Autosomal Recessive 18A
Sensorineural hearing impairment OMIM:602092
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
Sabinas Brittle Hair Syndrome
Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair OMIM:211390
X-Linked Intellectual Disability, Sutherland-Haan Type
Narrow face, Hypoplasia of the maxilla, Brachycephaly, Anal atresia, Mandibular prognathia, Long ... ORPHA:93950
Hypotrichosis 1
Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar... OMIM:605389
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyebrow, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Pili torti, Hypo... OMIM:602400
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Carious teeth, Downturned corners of mouth, Hypoplasia of the zygomatic bone, Low-set, posteriorl... ORPHA:1110
Kerion Celsi
Alopecia ORPHA:499
Cardiofaciocutaneous Syndrome 2
Sparse hair, Absent eyebrow, Fine hair, Curly hair OMIM:615278
Deafness, Autosomal Recessive 37
Abnormal vestibular function, Sensorineural hearing impairment OMIM:607821
Deafness, Autosomal Recessive 116
Sensorineural hearing impairment OMIM:619093
Woolly Hair, Autosomal Dominant
Dry hair, Coarse hair, Abnormal eyebrow morphology, Slow-growing hair, Abnormal eyelash morpholog... OMIM:194300
Cleft Velum
Short face, Hypoplasia of the maxilla, Conductive hearing impairment, Velopharyngeal insufficienc... ORPHA:99772
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Abnormal toenail m... ORPHA:248
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Hyperpigmentation of the skin, Abnormality of the nail OMIM:302000
Pili Torti, Early-Onset
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Co... OMIM:261900
Branchiootic Syndrome
Abnormality of the outer ear, Preauricular skin tag, Branchial fistula, Atresia of the external a... ORPHA:52429
Pierre Robin Syndrome
Micrognathia, Cleft palate, Glossoptosis, Pierre-Robin sequence OMIM:261800
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Micrognathia, Easily subluxated first metacarpophalangeal joints,... OMIM:311895
X-Linked Intellectual Disability, Porteous Type
Narrow face, Hypoplasia of the maxilla, Cupped ear, Short philtrum, Mandibular prognathia, Long f... ORPHA:93945
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Aplasia/Hypoplasia of the earlobes, Optic atrophy, Midface retrusion, Hypoplasia of the zygomatic... ORPHA:1555
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
Treacher Collins Syndrome 2
Microretrognathia, Conductive hearing impairment, Retrognathia, Hypoplasia of the zygomatic bone,... OMIM:613717
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
20P12.3 Microdeletion Syndrome
Hypoplasia of the maxilla, Long philtrum, Narrow mouth, Malar flattening, Full cheeks, Thickened ... ORPHA:261295
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Craniofacial-Deafness-Hand Syndrome
Narrow face, Hypoplasia of the maxilla, Flat face, Camptodactyly of finger, Abnormality of the wr... ORPHA:1529
Arthrogryposis, Distal, Type 1C
Bifid uvula, Cleft lip, Retrognathia, Pursed lips, Camptodactyly of finger, Elbow flexion contrac... OMIM:619110
Arthrogryposis, Distal, Type 6
Sensorineural hearing impairment OMIM:108200
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Low-set ears, Hypoplasia of the zygomatic bone, Umbilical hernia, Genu valgum, Low posterior hair... ORPHA:1778
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Low-set ears, Optic atrophy, Micrognathia, Narrow mouth, Short neck, Thin vermilion border OMIM:618766
Branchiogenic-Deafness Syndrome
Preauricular skin tag, Short distal phalanx of finger, Branchial fistula, Atresia of the external... OMIM:609166
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Maxillonasal Dysplasia
Short distal phalanx of finger, Hypoplasia of the maxilla, Flat face, Midface retrusion, Tooth ag... ORPHA:1248
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Nail dystrophy OMIM:616487
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Alopecia, Nail pits, Ridged nail, Nail dystrophy OMIM:601705
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair OMIM:610476
Chand Syndrome
Nail dysplasia, Curly hair OMIM:214350
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Sparse body hair, Melanocytic nevus, Abnormal eyelash morphology, Sparse sc... ORPHA:1008
Trichodentoosseous Syndrome
Widely spaced teeth, Microdontia, Taurodontia, Dolichocephaly, Frontal bossing OMIM:190320
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy, Sensorineural hearing impairment OMIM:136600
Lujan-Fryns Syndrome
Low-set ears, Abnormality of the dentition, Hypoplasia of the maxilla, Narrow face, Dental crowdi... ORPHA:776
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho... OMIM:619274
Crouzon Syndrome
Optic atrophy, Hypoplasia of the maxilla, Conductive hearing impairment, Hearing impairment, Midf... ORPHA:207
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion, Facial asymmetry OMIM:133900
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Trichodysplasia, Alopecia of scalp ORPHA:79129
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ... OMIM:600791
Crandall Syndrome
Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Marshall Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Flat face, Hypoplasia of the zygomatic b... ORPHA:560
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome
Whistling appearance, Downturned corners of mouth, Low-set, posteriorly rotated ears, Micrognathi... ORPHA:1150
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Optic atrophy, Hypoplasia of the maxilla, Conductive hearing impairment, Malar flattening, Abnorm... ORPHA:93262
14Q11.2 Microdeletion Syndrome
Long philtrum, Low-set, posteriorly rotated ears, Micrognathia, Narrow mouth, Exaggerated cupid's... ORPHA:261120
Acrofacial Dysostosis, Catania Type
Tessier cleft, Webbed neck, Abnormality of the dentition, Carious teeth, Microretrognathia, Hypop... ORPHA:1786
Aarskog-Scott Syndrome
Genu recurvatum, Abnormality of the dentition, Hypoplasia of the maxilla, Small hand, Delayed eru... ORPHA:915
Oligodontia
Short face, Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped... ORPHA:99798
Auriculocondylar Syndrome
Hearing impairment, Question mark ear, Micrognathia, Narrow mouth, Abnormal pinna morphology, Dif... ORPHA:137888
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... ORPHA:860
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Dysostosis, Stanescu Type
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Midface retrusion, Hypopl... ORPHA:1798
Frontonasal Dysplasia 1
Low-set ears, Cranium bifidum occultum, Hypoplasia of the maxilla, Preauricular skin tag, Conduct... OMIM:136760
Antley-Bixler Syndrome
Hypoplasia of the zygomatic bone, Long philtrum, Delayed cranial suture closure, Low-set, posteri... ORPHA:83
Meier-Gorlin Syndrome 8
Low-set ears, Micrognathia, Narrow mouth, Thick vermilion border, Microtia OMIM:617564
Severe Oculo-Renal-Cerebellar Syndrome
Optic atrophy, Mandibular prognathia, Narrow face, Hypoplasia of the zygomatic bone, Large earlob... ORPHA:2715
Toluene Embryopathy
Low-set ears, Hypoplasia of the zygomatic bone, Micrognathia, Protruding ear, Smooth philtrum, Th... ORPHA:1920
Autosomal Recessive Distal Osteolysis Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Midface retrusion, Short distal phalanx ... ORPHA:2776
Temtamy Preaxial Brachydactyly Syndrome
Low-set ears, Tooth malposition, Micrognathia, Narrow mouth, Abnormal optic disc morphology, Shor... ORPHA:363417
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Microglossia, Conductive hearing impairment, Microretrognathia, Aplasi... ORPHA:1307
Craniosynostosis And Dental Anomalies
Lambdoidal craniosynostosis, High palate, Chronic otitis media, Flat occiput, Coronal craniosynos... OMIM:614188
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Preauricular skin tag, Optic atrophy, Camptodactyly of finger, Micrognathia, Narrow mouth, Abnorm... ORPHA:1495
Ectodermal Dysplasia And Neurosensory Deafness
Sensorineural hearing impairment OMIM:224800
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Hypoplasia of the maxilla, Decreased motor nerve conduction velocity, Decreased nerve conduction ... OMIM:218000
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology OMIM:615617
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Abnormal morphology of the vestibule of the inner ear, Sensori... OMIM:611584
Worster-Drought Syndrome
Abnormal cranial nerve morphology, Sensorineural hearing impairment ORPHA:3465
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Monilethrix
Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma... ORPHA:573
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the dentition, Carious teeth, Midface retrusion, Hypoplasia of the zygomatic bone,... ORPHA:3253
Pfeiffer Syndrome
Flat face, Synostosis of carpal bones, Hypoplasia of the zygomatic bone, Open mouth, Turricephaly... ORPHA:710
Isolated Pierre Robin Syndrome
Micrognathia, Cleft palate, Glossoptosis ORPHA:718
Congenital Heart Defects, Multiple Types, 9
Low-set ears, Hypoplastic left heart, Unbalanced atrioventricular canal defect, Aortopulmonary co... OMIM:620294
Whistling Face Syndrome, Recessive Form
Whistling appearance, Microglossia, Midface retrusion, Long philtrum, Elbow flexion contracture, ... OMIM:277720
Genitopalatocardiac Syndrome
Low-set ears, Micrognathia, Right aortic arch, Ventricular septal defect, Renal cyst, Transpositi... OMIM:231060
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, Camptodactyly of finger, Protruding ear, High palate, Short palm ORPHA:85279
Microcephaly-Microcornea Syndrome, Seemanova Type
Brachycephaly, High palate, Narrow mouth, Retrognathia ORPHA:2528
Carvajal Syndrome
Woolly hair ORPHA:65282
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Short 5th metacarpal, Short middle phalanx of the 2nd finger, Thin ver... OMIM:156510
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Low-set ears, Flat face, Velopharyngeal insufficiency, Stapes ankylosis, Long philtrum, Intestina... OMIM:614701
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Hypoplasia of the zygomatic bone, ... ORPHA:989
Deafness-Ear Malformation-Facial Palsy Syndrome
Aplasia/Hypoplasia of the earlobes, Hypoplasia of the antihelix, Conductive hearing impairment, A... ORPHA:3232
Ectodermal Dysplasia 4, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys... OMIM:602032
48,Xxyy Syndrome
Broad jaw, Carious teeth, Delayed eruption of teeth, Elbow dislocation, Thick lower lip vermilion... ORPHA:10
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Catel-Manzke Syndrome
Oral synechia, Camptodactyly of finger, Low-set, posteriorly rotated ears, Micrognathia, Malar fl... ORPHA:1388
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Interrupted aortic arch, Hearing impairment, Tetralogy of Fallot, Anterio... ORPHA:1727
Amelogenesis Imperfecta, Type Ia
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia OMIM:104530
Hypotrichosis 7
Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill... OMIM:604379
Oculoauriculofrontonasal Syndrome
Preauricular skin tag, Cleft lip, Conductive hearing impairment, Micrognathia, Narrow mouth, Ence... ORPHA:398156
Intellectual Disability-Short Stature-Hypertelorism Syndrome
Frontal bossing, Hypoplasia of the zygomatic bone, Long philtrum ORPHA:3074
Tooth Agenesis, Selective, 9
Taurodontia, Selective tooth agenesis, Microdontia OMIM:617275
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Hypotrichosis 5
Abnormal sweat gland morphology, Alopecia, Thin eyebrow, Sparse eyelashes, Absent pubic hair, Abs... OMIM:612841
Structural Heart Defects And Renal Anomalies Syndrome
Low-set ears, Webbed neck, Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Trunc... OMIM:617478
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Small hand, Midface retrusion, Malar flattening, Short foot, Cleft palate OMIM:300261
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fine hair, Fragile nails ORPHA:500166
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Melanocytic nevus, Dystrophic fingernail... ORPHA:1882
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Long philtrum, Sensorineural hearing impairment, Osteoarthritis, Cleft... ORPHA:90653
Cohen Syndrome
Aplasia/Hypoplasia of the earlobes, High, narrow palate, Hypoplasia of the maxilla, Abnormality o... ORPHA:193
Palmoplantar Keratoderma And Woolly Hair
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly hair, Sparse scalp hair OMIM:616099
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Periapical bone loss, Mandibular osteomyelitis, Dental malocclusion... ORPHA:83451
Periodontal Ehlers-Danlos Syndrome
Periodontitis, Atrophy of alveolar ridges, Agenesis of permanent teeth, Micrognathia, Gingival ov... ORPHA:75392
Hypotrichosis 12
Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ... OMIM:615885
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse eyebrow, Fine hair, Ridged nail, Sparse eyelashes, Hypohidrosis, Slow-growing hair, Sparse... OMIM:129490
Hypotrichosis 13
Abnormal sweat gland morphology, Sparse hair, Woolly hair, Sparse eyelashes OMIM:615896
Deafness, Autosomal Recessive 121
Vestibular hypofunction, Sensorineural hearing impairment OMIM:620551
Witkop Syndrome
Abnormal sweat gland morphology, Fine hair, Ridged nail, Concave nail, Hypoplastic fifth toenail,... OMIM:189500
Spastic Paraplegia 70, Autosomal Recessive
Low-set ears, Micrognathia, Ankle clonus, Sensorineural hearing impairment, High palate OMIM:620323
Intellectual Developmental Disorder, Autosomal Recessive 68
Protruding ear, Hypoplasia of the maxilla OMIM:618302
Congenital Myopathy 16
High palate, Micrognathia, Narrow mouth OMIM:618524
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Atelosteogenesis, Type Iii
Hypoplasia of the maxilla, Rhizomelia, Midface retrusion, Elbow dislocation, Knee dislocation, Mi... OMIM:108721
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Noonan Syndrome
Webbed neck, Abnormal EKG, Hypertrophic cardiomyopathy, Low-set, posteriorly rotated ears, Aplasi... ORPHA:648
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Mottled pigmentation, Hypermelanotic macule, Nail dystrophy, Hypomelanotic macule, Spot... ORPHA:79397
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Patchy alopecia, Scarring alopecia of scalp ORPHA:346
Crouzon Syndrome
Lambdoidal craniosynostosis, Optic atrophy, Hypoplasia of the maxilla, Coronal craniosynostosis, ... OMIM:123500
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv... OMIM:615897
Intellectual Disability, Birk-Barel Type
High, narrow palate, Tongue fasciculations, Micrognathia, Open mouth, Tented upper lip vermilion,... ORPHA:166108
Charlie M Syndrome
Tooth agenesis, Micrognathia, Narrow mouth, Thin vermilion border, Short philtrum, Non-midline cl... ORPHA:1406
Autosomal Recessive Spastic Paraplegia Type 27
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment ORPHA:101007
Hypertrichosis Lanuginosa Congenita
Congenital, generalized hypertrichosis, Double eyebrow OMIM:145700
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Low-set, posteriorly rotated ears, Micrognathia, Thin upper lip vermilion, Short neck, Cleft palate ORPHA:2015
Immunodeficiency 76
Lymphopenia, Splenomegaly, Death in childhood, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Bor Syndrome
Preauricular skin tag, Atresia of the external auditory canal, Branchial cyst, Hearing impairment... ORPHA:107
Acro-Renal-Mandibular Syndrome
Narrow face, Hypoplastic scapulae, Hypoplasia of the zygomatic bone, Aplasia/Hypoplasia of the to... ORPHA:958
Ectodermal Dysplasia 7, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ... OMIM:614929
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Combined Immunodeficiency, X-Linked
Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... OMIM:312863
Copper Deficiency, Familial Benign
Early balding, Curly hair OMIM:121270
Hemifacial Atrophy, Progressive
Dental malocclusion, Delayed eruption of teeth, Trigeminal neuralgia, Hemifacial atrophy, Horner ... OMIM:141300
Hypomandibular Faciocranial Dysostosis
Coronal craniosynostosis, Hypoplasia of the maxilla, Pursed lips, Optic disc coloboma, Aglossia, ... OMIM:241310
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al... OMIM:262000
Chromosome 1P35 Deletion Syndrome
Hearing impairment, Micrognathia, Anterior creases of earlobe, Narrow mouth, Sensorineural hearin... OMIM:617930
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Low-set ears, Velopharyngeal insufficiency, Micrognathia, Patellar dislocation, Dislocated radial... OMIM:620663
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Narrow face, Hypoplasia of the maxilla, High palate, Mandibular prognathia, Long face OMIM:300676
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Hamel Cerebro-Palato-Cardiac Syndrome
Cupped ear, Micrognathia, Narrow mouth, Malar flattening, Cleft palate ORPHA:93946
Hypertrichosis, Congenital Generalized, 2
Hirsutism, Congenital, generalized hypertrichosis OMIM:307150
Oculodentodigital Dysplasia, Autosomal Recessive
Low-set ears, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Smal... OMIM:257850
Trichodental Dysplasia
Sparse hair, Slow-growing hair, Fine hair, Brittle hair OMIM:601453
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Abducens palsy, Mandibular prognathia, Crowded maxillary incisors ORPHA:397973
Camptodactyly Syndrome, Guadalajara Type 1
Short distal phalanx of finger, Flat face, Narrow face, Dental malocclusion, Downturned corners o... ORPHA:1327
2Q32Q33 Microdeletion Syndrome
Low-set ears, Dental crowding, Long philtrum, Micrognathia, Narrow mouth, Oligodontia, Brachyceph... ORPHA:251019
Dental Anomalies And Short Stature
Hypoplasia of the maxilla, Widely spaced teeth, Oligodontia, Microdontia, Amelogenesis imperfecta... OMIM:601216
Keipert Syndrome
Short distal phalanx of finger, Hypoplasia of the maxilla, Tented upper lip vermilion, Exaggerate... ORPHA:2662
Hypotrichosis 6
Sparse eyebrow, Sparse eyelashes, Pili torti, Brittle hair, Sparse hair OMIM:607903
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Fine hair ORPHA:1174
Pierre Robin Syndrome And Oligodactyly
Finger aplasia, Micrognathia, Cleft palate, Pierre-Robin sequence OMIM:172880
Apert Syndrome
Sensorineural hearing impairment, Aplasia/Hypoplasia of the thumb, Cloverleaf skull, Flat face, H... ORPHA:87
17Q21.31 Microduplication Syndrome
Abnormality of the outer ear, Abnormality of the dentition, Micrognathia, Malar flattening, High ... ORPHA:217340
8Q22.1 Microdeletion Syndrome
Low-set ears, Abnormality of the dentition, Hypoplasia of the maxilla, Long philtrum, Camptodacty... ORPHA:178303
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Stankiewicz-Isidor Syndrome
Low-set ears, Hearing impairment, Retrognathia, Micrognathia, Truncus arteriosus, Ventricular sep... OMIM:617516
Orofaciodigital Syndrome Ii
Hypoplasia of the maxilla, Conductive hearing impairment, Lobulated tongue, Micrognathia, Malar f... OMIM:252100
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Alopecia, Ridged fingernail, Hypopigmented skin patches, Fingernail... ORPHA:2251
Crisponi/Cold-Induced Sweating Syndrome 1
Low-set ears, Carious teeth, Retrognathia, Long philtrum, Large face, Elbow flexion contracture, ... OMIM:272430
Periventricular Nodular Heterotopia 7
Microretrognathia, Dental crowding, Contracture of the proximal interphalangeal joint of the 2nd ... OMIM:617201
Porphyria Cutanea Tarda
Hyperpigmentation in sun-exposed areas, Alopecia, Onycholysis, Facial hypertrichosis OMIM:176100
Rubinstein-Taybi Syndrome 2
Narrow palate, Carious teeth, Dental malocclusion, Retrognathia, Short 5th toe, Intestinal malrot... OMIM:613684
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis ORPHA:2978
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Death in childhood, Hypoplasia of the thymus OMIM:200900
Chondrodysplasia With Joint Dislocations, Gpapp Type
Coronal craniosynostosis, Capitate-hamate fusion, Flat face, Hearing impairment, Short toe, Knee ... OMIM:614078
Osteogenesis Imperfecta, Type Xii
Dentinogenesis imperfecta, Midface retrusion, Delayed eruption of teeth, Hearing impairment, Brac... OMIM:613849
Congenital Smooth Muscle Hamartoma, With Or Without Hemihypertrophy
Hypertrichosis OMIM:620470
Pseudopelade Of Brocq
Alopecia, Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, S... ORPHA:129
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Low-set ears, Retrognathia, Hypoplasia of the zygomatic bone, Abnormal dental enamel morphology, ... ORPHA:1812
Mullegama-Klein-Martinez Syndrome
Low-set ears, Bifid uvula, Submucous cleft of soft and hard palate, Cleft lip, Preauricular skin ... OMIM:301022
Lambert Syndrome
Preauricular skin tag, Wide mouth, Branchial anomaly, Malar flattening ORPHA:1296
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Webbed neck, Micrognathia, Abnormal aortic morphology, Ventricular septal defect, Truncus arterio... ORPHA:2516
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Brittle hair OMIM:618546
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Hypoplasia of the maxilla, Microretrognathia, Long philtrum, Biparietal narrowing, Thick vermilio... ORPHA:228396
Distal Deletion 1Q
Low-set ears, Micrognathia, Smooth philtrum, Round face, Thin vermilion border ORPHA:36367
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Low-set ears, Microretrognathia, Plagiocephaly, Hypoplasia of the zygomatic bone, Frontal bossing... OMIM:613603
Pycnodysostosis
Small hand, Carious teeth, Acromelia, Delayed cranial suture closure, Micrognathia, Mild conducti... ORPHA:763
Van Maldergem Syndrome 1
Atresia of the external auditory canal, Micrognathia, Irregular dentition, Sensorineural hearing ... OMIM:601390
Carpenter Syndrome 1
Low-set ears, Lambdoidal craniosynostosis, Joint contracture of the hand, Shallow acetabular foss... OMIM:201000
Hypomandibular Faciocranial Dysostosis
Low-set ears, Bifid uvula, Midface retrusion, Aplasia/Hypoplasia of the tongue, Optic disc colobo... ORPHA:1790
Cranioectodermal Dysplasia
Abnormality of the dentition, Short distal phalanx of finger, Rhizomelia, Abnormal dental enamel ... ORPHA:1515
Prolidase Deficiency
Carious teeth, Hypoplasia of the zygomatic bone, Hearing impairment, Micrognathia, Genu valgum, A... ORPHA:742
Andersen Cardiodysrhythmic Periodic Paralysis
Low-set ears, Small hand, Micrognathia, High palate, Short foot, Short metacarpal, Hypoplasia of ... OMIM:170390
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Abnormal hair morphology, Alopecia of ... ORPHA:69125
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Oliver-Mcfarlane Syndrome
Alopecia, Pigmentary retinopathy, Central heterochromia, Long eyelashes, Long eyebrows, Sparse hair OMIM:275400
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Hyperpigmentation of the skin, Brittle hai... OMIM:104100
Leopard Syndrome 2
Multiple lentigines, Cafe-au-lait spot, Curly hair OMIM:611554
Hypodontia-Dysplasia Of Nails Syndrome
Ridged fingernail, Thin toenail, Fine hair, Hypoplastic fingernail, Abnormal fingernail morpholog... ORPHA:2228
Orofaciodigital Syndrome Xix
Low-set ears, Narrow palate, Carious teeth, Cupped ear, Downturned corners of mouth, Lobulated to... OMIM:620107
Hypoglossia With Situs Inversus
Low-set ears, Microglossia, Micrognathia, Narrow mouth, Hypodontia, High palate OMIM:612776
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Taurodo... OMIM:157980
Recombinant Chromosome 8 Syndrome
Low-set ears, Hearing impairment, Tetralogy of Fallot, Micrognathia, Malar flattening, Ventricula... OMIM:179613
Lowry-Maclean Syndrome
Low-set ears, High, narrow palate, Hypoplasia of the maxilla, Downturned corners of mouth, Retrog... ORPHA:2409
Intellectual Developmental Disorder, Autosomal Dominant 26
Low-set ears, Umbilical hernia, Micrognathia, Narrow mouth, Brachycephaly, Deep philtrum, Thick v... OMIM:615834
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Optic atrophy, Hypoplasia of the zygomatic bone, Long philtrum, Micromelia, Short neck, Brachycep... OMIM:614800
Moynahan Syndrome
Alopecia, Sparse hair ORPHA:2574
Cardioacrofacial Dysplasia 1
Conical tooth, Hypoplasia of the maxilla, Midface retrusion, Diastema, Genu valgum, Limb undergro... OMIM:619142
Clouston Syndrome
Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail dystrophy, ... OMIM:129500
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Dystrophic toenail, Anhidrosis OMIM:619209
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Midface retrusion, Frontal bossing, Abnormal palate morphology, Turric... ORPHA:1540
Ectodermal Dysplasia-Syndactyly Syndrome 1
Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ... OMIM:613573
Microcephaly-Capillary Malformation Syndrome
Low-set ears, Optic atrophy, Hypoplasia of the maxilla, Short distal phalanx of finger, Hearing i... OMIM:614261
Intellectual Developmental Disorder, Autosomal Dominant 21
Low-set ears, Long philtrum, Narrow mouth, Thin vermilion border, Incisor macrodontia, Posteriorl... OMIM:615502
Frontoocular Syndrome
Low-set ears, Coronal craniosynostosis, Trigonocephaly, Micrognathia, Narrow mouth, Narrow philtr... OMIM:605321
Warburg Micro Syndrome 1
Low-set ears, Optic atrophy, Micrognathia, Narrow mouth, Thin vermilion border, Macrotia, Perisyl... OMIM:600118
Emanuel Syndrome
Aortic valve stenosis, Low-set ears, Broad jaw, Hearing impairment, Macrotia, Recurrent otitis me... OMIM:609029
Intellectual Developmental Disorder, Autosomal Dominant 70
Hypoplasia of the maxilla, Hearing impairment, Retrognathia, Micrognathia, Malar flattening, Mand... OMIM:620157
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies
Low-set ears, Tooth malposition, Short 5th finger, Hearing impairment, Micrognathia, Thin upper l... OMIM:618608
Saethre-Chotzen Syndrome
Low-set ears, Optic atrophy, Hypoplasia of the maxilla, Plagiocephaly, Conductive hearing impairm... ORPHA:794
Arthrogryposis, Distal, Type 2B1
Webbed neck, Long philtrum, Camptodactyly of finger, Micrognathia, Narrow mouth, Abnormality of t... OMIM:601680
Pde4D Haploinsufficiency Syndrome
Hearing impairment, Micrognathia, Short metacarpal, Flat face, Hypoplasia of the maxilla, Short t... ORPHA:439822
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... OMIM:618204
Immunodeficiency 105
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple... OMIM:619924
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormal aortic arch morphology, Ab... ORPHA:2306
Double Outlet Right Ventricle
Hypoplastic left heart, Pulmonary artery atresia, Tetralogy of Fallot, Heart murmur, Abnormality ... ORPHA:3426
Trisomy 18P
High, narrow palate, Preauricular skin tag, Midface retrusion, Micrognathia, Narrow mouth, Thin v... ORPHA:1715
Cardiofaciocutaneous Syndrome 4
Multiple lentigines, Alopecia of scalp, Sparse eyelashes, Absent eyebrow, Hyperhidrosis, Curly ha... OMIM:615280
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Obl... ORPHA:3352
Ataxia, Deafness, And Cardiomyopathy
Sensorineural hearing impairment OMIM:208750
Hypertelorism, Microtia, Facial Clefting Syndrome
Short 5th finger, Tessier cleft, Conductive hearing impairment, Atresia of the external auditory ... OMIM:239800
Skraban-Deardorff Syndrome
Hyperplasia of the maxilla, Widely spaced teeth, Recurrent otitis media, Thick upper lip vermilio... OMIM:617616
Non-Syndromic Genetic Deafness
Prelingual sensorineural hearing impairment, Conductive hearing impairment, Progressive sensorine... ORPHA:87884
Cortisone Reductase Deficiency 1
Alopecia, Hirsutism OMIM:604931
Branchiootic Syndrome 1
Low-set ears, Dilatated internal auditory canal, Branchial fistula, Cupped ear, Retrognathia, Pre... OMIM:602588
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Microglossia, Temporomandibular joint ankylosis, Micrognathia, Cle... ORPHA:141152
Nathalie Syndrome
Sensorineural hearing impairment ORPHA:2663
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Microglossia, Retrognathia, Short thumb, Micrognathia, Narrow mouth, Neonatal d... OMIM:227270
Renpenning Syndrome
High, narrow palate, Narrow face, Mandibular prognathia, Macrodontia, Narrow mouth, Malar flatten... ORPHA:3242
Snijders Blok-Campeau Syndrome
Low-set ears, Midface retrusion, Umbilical hernia, Widely spaced teeth, Taurodontia, Enamel hypop... OMIM:618205
Choroidal Atrophy-Alopecia Syndrome
Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Bifid nail, T... ORPHA:1433
Axenfeld-Rieger Syndrome
Hypoplasia of the maxilla, Anal stenosis, Midface retrusion, Hearing impairment, Microdontia, Hyp... ORPHA:782
Cardiofaciocutaneous Syndrome 3
Hyperhidrosis, Curly hair OMIM:615279
Burn-Mckeown Syndrome
Bifid uvula, Preauricular skin tag, Conductive hearing impairment, Hearing impairment, Cleft uppe... OMIM:608572
Chromosome 22Q11.2 Duplication Syndrome
Low-set ears, Velopharyngeal insufficiency, Micrognathia, High palate, Abnormal pinna morphology OMIM:608363
Verheij Syndrome
Branchial cyst, Retrognathia, Ventricular septal defect, Truncus arteriosus, Renal cyst, Short ne... OMIM:615583
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Malar flattening, Hypoplasia of the zygomatic bone ORPHA:2835
Robin Sequence-Oligodactyly Syndrome
Finger aplasia, Abnormality of the dentition, Narrow face, Micrognathia, Glossoptosis, Cleft palate ORPHA:3104
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Open mouth, Sensorineural hearing impairment, Everted lower lip vermil... ORPHA:192
Rapp-Hodgkin Syndrome
Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Conical tooth, Velopharyngeal insufficienc... OMIM:129400
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate OMIM:119540
Hypotrichosis With Juvenile Macular Degeneration
Fine hair, Melanocytic nevus, Pili torti, Freckling, Brittle hair, Sparse scalp hair ORPHA:1573
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Long philtrum, Micrognathia, Malar flattening, Sensorineural hearing impairment, Osteoarthritis, ... ORPHA:166100
Edinburgh Malformation Syndrome
Low-set ears, Downturned corners of mouth, Micrognathia, Narrow mouth, Low posterior hairline, Ab... ORPHA:1895
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia, Neonatal death OMIM:257100
Frontorhiny
Cranium bifidum occultum, Hypoplasia of the maxilla, Preauricular skin tag, Camptodactyly of fing... ORPHA:391474
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Flat face, Hypoplasia of the maxilla, Abnormal auditory evoked potentials, Malar flattening, Sens... OMIM:109120
Auriculocondylar Syndrome 3
Bifid uvula, Bilateral conductive hearing impairment, Retrognathia, Question mark ear, Stenosis o... OMIM:615706
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Abnormality of carpal bone ossification, Hypoplasia of the maxilla, Genu valgum, Sensorineural he... OMIM:608154
Usher Syndrome Type 3
Abnormal cochlea morphology, Vestibular hypofunction, Sensorineural hearing impairment ORPHA:231183
Deafness, X-Linked 5, With Peripheral Neuropathy
Hearing impairment, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia, Tinnitus,... OMIM:300614
Craniofacial Microsomia 2
Bifid uvula, Microtia, first degree, Microtia, third degree, Microtia, second degree, Micrognathi... OMIM:620444
48,Xxxy Syndrome
Hip dislocation, Carious teeth, Delayed eruption of teeth, Elbow dislocation, Open bite, Abnormal... ORPHA:96263
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Alopecia, Toenail dysplasia, Abnormal fingernail morphology, Fingernail dysplasia, Hypoplastic to... ORPHA:2325
Orofaciodigital Syndrome Type 1
Hearing impairment, Open bite, Micrognathia, Tarsal synostosis, High palate, Chronic otitis media... ORPHA:2750
Atkin-Flaitz Syndrome
Abnormality of the dentition, Coarse facial features, Everted lower lip vermilion, Thick vermilio... ORPHA:1193
Autism Spectrum Disorder Due To Auts2 Deficiency
Low-set ears, Joint contracture of the hand, Retrognathia, Umbilical hernia, Periauricular skin p... ORPHA:352490
Smith-Magenis Syndrome
Conductive hearing impairment, Midface retrusion, Cleft upper lip, Large face, Frontal bossing, M... ORPHA:819
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Ankle swelling, Carpal osteolysis, Wrist swelling, Bilateral elbow dis... OMIM:166300
Mesomelia-Synostoses Syndrome
High, narrow palate, Synostosis of joints, Abnormality of the ankle, Synostosis of carpal bones, ... ORPHA:2496
Axenfeld-Rieger Syndrome, Type 2
Hypoplasia of the maxilla, Anal stenosis, Hearing impairment, Umbilical hernia, Microdontia, Hypo... OMIM:601499
Taurodontism
Taurodontia OMIM:272700
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dystrophy, Abs... ORPHA:2890
Bazex-Dupré-Christol Syndrome
Sparse eyebrow, Coarse hair, Trichorrhexis nodosa, Sparse or absent eyelashes, Pili torti, Sparse... ORPHA:113
Hajdu-Cheney Syndrome
Low-set ears, Periodontitis, Hearing impairment, Open bite, Micrognathia, Narrow mouth, Absent fr... ORPHA:955
Lethal Osteosclerotic Bone Dysplasia
Low-set ears, Retrognathia, Delayed cranial suture closure, Gingival overgrowth, Micrognathia, Me... ORPHA:1832
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Bifid uvula, Small hand, Recurrent otitis media, Micrognathia, Narrow mouth, Short philtrum, Full... ORPHA:96184
Cohen Syndrome
High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill... OMIM:216550
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies
Thin upper lip vermilion, Small hand, Micrognathia, Narrow mouth OMIM:617755
Meier-Gorlin Syndrome 5
Low-set ears, Hypoplasia of the maxilla, Elbow dislocation, Long philtrum, Micrognathia, Patellar... OMIM:613805
Van Maldergem Syndrome 2
Atresia of the external auditory canal, Hearing impairment, Micrognathia, Irregular dentition, Se... OMIM:615546
Intellectual Developmental Disorder, Autosomal Dominant 34
Synophrys, Coarse hair, Curly hair OMIM:616351
Deafness, X-Linked 2
Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari... OMIM:304400
Cleidocranial Dysplasia 2
Short distal phalanx of finger, Hypoplasia of the maxilla, Aplastic clavicle, Plagiocephaly, Hear... OMIM:620099
Dislocation Of The Hip-Dysmorphism Syndrome
Congenital hip dislocation, Hearing abnormality, Malar flattening, Narrow mouth, Abnormal palate ... ORPHA:2412
Onychotrichodysplasia And Neutropenia
Sparse pubic hair, Hypoplastic fingernail, Trichorrhexis nodosa, Curly eyelashes, Concave nail, C... OMIM:258360
Meier-Gorlin Syndrome 4
Low-set ears, Genu recurvatum, Hypoplasia of the maxilla, Thick lower lip vermilion, Micrognathia... OMIM:613804
Treacher Collins Syndrome 4
Conductive hearing impairment, Micrognathia, Malar flattening, Facial asymmetry, Cleft palate OMIM:618939
Autosomal Recessive Centronuclear Myopathy
Bifid uvula, Retrognathia, Narrow mouth, Facial diplegia, Hip contracture, Protruding ear, Abnorm... ORPHA:169186
Gorlin-Chaudhry-Moss Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Short distal phalanx of finger, Conducti... ORPHA:2095
Pseudohermaphroditism, Female, With Skeletal Anomalies
Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head dislocation OMIM:264270
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Low-set ears, Hypoplasia of the maxilla, Hearing impairment, Long philtrum, Protruding ear, Smoot... ORPHA:481152
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Split-Foot Deformity With Mandibulofacial Dysostosis
Micrognathia, Abnormality of the ear, Malar flattening, Cleft palate OMIM:183700
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Ayme-Gripp Syndrome
Low-set ears, Craniofacial asymmetry, Abnormality of the dentition, Mandibular prognathia, Midfac... OMIM:601088
Noonan Syndrome 6
Multiple lentigines, Low posterior hairline, Curly hair, Long eyebrows, Sparse hair, Cafe-au-lait... OMIM:613224
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Abnormal B cell morphology OMIM:616911
Alopecia Totalis
Alopecia totalis, Vitiligo, Alopecia of scalp, Onycholysis, Trachyonychia, Nail pits, Fragile nails ORPHA:700
Acrodysostosis
Flat face, Hypoplasia of the maxilla, Midface retrusion, Delayed eruption of teeth, Hearing impai... ORPHA:950
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Double outlet right ventricle, Dextrocardia OMIM:618254
Fetal Akinesia Deformation Sequence 4
Low-set ears, Broad neck, Retrognathia, 11 pairs of ribs, Micrognathia, Neonatal death, Short nec... OMIM:618393
Agnathia-Otocephaly Complex
Low-set ears, Microglossia, Conductive hearing impairment, Aglossia, Micrognathia, Narrow mouth, ... OMIM:202650
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u... ORPHA:2563
Heart And Brain Malformation Syndrome
Low-set ears, Interrupted aortic arch, Ventricular septal defect, Attached earlobe, Posteriorly r... OMIM:616920
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Low-set ears, Hypoplastic left heart, Tetralogy of Fallot, Micrognathia, V... OMIM:220210
Hawkinsinuria
Sparse hair, Fine hair ORPHA:2118
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... OMIM:204650
Cardiofaciocutaneous Syndrome
Webbed neck, Optic atrophy, Hypoplasia of the zygomatic bone, Long philtrum, Frontal bossing, Low... ORPHA:1340
Cataract-Intellectual Disability-Hypogonadism Syndrome
Tooth malposition, Midface retrusion, Low-set, posteriorly rotated ears, Furrowed tongue, Microgn... ORPHA:1387
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Narrow palate, Narrow face, Hearing impairment, Long philtrum, Retrognathia, Frontal bossing, Mic... OMIM:620250
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Low-set ears, Narrow face, Hypoplasia of the maxilla, Dental crowding, Micrognathia, Open mouth, ... OMIM:309520
Mosaic Trisomy 14
Camptodactyly of finger, Low-set, posteriorly rotated ears, Frontal bossing, Micrognathia, Short ... ORPHA:1703
Mesomelic Limb Shortening And Bowing
Retrognathia, Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Mesomelic arm shor... OMIM:249710
Cerebrooculofacioskeletal Syndrome 3
Low-set ears, Micrognathia, Cleft palate OMIM:616570
Distal Xq28 Microduplication Syndrome
Hypoplasia of the maxilla, Dental crowding, Absent antihelix, Thick lower lip vermilion, Open mou... ORPHA:293939
Andersen-Tawil Syndrome
Low-set ears, Abnormality of the dentition, Hypoplasia of the maxilla, Small hand, Dental crowdin... ORPHA:37553
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Webbed neck, Hydranencephaly, Ventricular septal defect, Truncus arteriosus OMIM:601355
Chromosome Xq21 Deletion Syndrome
Incomplete partition of the cochlea, Conductive hearing impairment, Progressive sensorineural hea... OMIM:303110
Aase-Smith Syndrome
Aplasia/Hypoplasia of the radius, Camptodactyly of finger, Trismus, Abnormal pinna morphology, Cl... ORPHA:916
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Thin upper lip vermilion, Short distal phalanx of finger, Genu valgum, Hypoplasia of the zygomati... ORPHA:1295
Temtamy Preaxial Brachydactyly Syndrome
Optic atrophy, Plagiocephaly, Diastema, Carpal synostosis, Tarsal synostosis, Microdontia, Radiou... OMIM:605282
Myopathy, Centronuclear, 5
Bifid uvula, Retrognathia, Micrognathia, Narrow mouth, Hip contracture, High palate OMIM:615959
Hemifacial Microsomia With Radial Defects
Preauricular skin tag, Conductive hearing impairment, Atresia of the external auditory canal, Hem... OMIM:141400
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Ankle flexion contracture, Dental crowding, Branchial cyst, Knee flexion contracture, Sensorineur... ORPHA:435938
49,Xxxxy Syndrome
Hip dislocation, Carious teeth, Delayed eruption of teeth, Elbow dislocation, Open bite, Abnormal... ORPHA:96264
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short distal phalanx of finger, Micrognathia, Narrow mouth, Open mouth, Microdontia, Coarse facia... OMIM:619356
Usher Syndrome Type 1
Vestibular hypofunction, Abnormal cochlea morphology, Sensorineural hearing impairment ORPHA:231169
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia, Multiple pterygia OMIM:601809
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features
Flat face, Abnormal cortical gyration, Microretrognathia, Pterygium, Trigonocephaly, Narrow mouth... OMIM:177980
Aredyld Syndrome
Craniofacial hyperostosis, Low-set, posteriorly rotated ears, Abnormal dental enamel morphology, ... ORPHA:1133
Branchiootorenal Syndrome 1
Dilatated internal auditory canal, Branchial cyst, Sensorineural hearing impairment, Enlarged ves... OMIM:113650
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Cervical lymphadenopathy, B lymphocytopenia OMIM:618987
Intellectual Developmental Disorder, Autosomal Recessive 69
Hyperplasia of the maxilla OMIM:618383
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Optic atrophy, Prominent antihelix, Retrognathia, Protruding ear, Uplifted earlobe, Optic disc pa... OMIM:615722
Emanuel Syndrome
Aortic valve stenosis, Low-set ears, Broad jaw, Delayed eruption of teeth, Hearing impairment, Ma... ORPHA:96170
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... ORPHA:90646
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, Carious teeth, Delayed eruption of teeth, Long philtrum, Frontal bossi... ORPHA:50814
Cog7-Cdg
Retrognathia, Micrognathia, Narrow mouth, Abnormal facial shape, Short neck ORPHA:79333
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Short distal phalanx of finger, Hypoplasia of the maxilla, Diastema, Furrowed tongue, Micrognathi... OMIM:300534
Spastic Paraplegia 16, X-Linked
Short distal phalanx of finger, Hypoplasia of the maxilla OMIM:300266
7Q31 Microdeletion Syndrome
Low-set ears, Hypoplasia of the maxilla, Childhood onset sensorineural hearing impairment, Enlarg... ORPHA:251061
Palmoplantar Keratoderma And Congenital Alopecia 2
Alopecia totalis, Nail dystrophy, Nail dysplasia OMIM:212360
Chromosome 22Q11.2 Deletion Syndrome, Distal
Malar flattening, Truncus arteriosus OMIM:611867
Microphthalmia, Syndromic 9
Low-set ears, Hypoplastic left atrium, Right aortic arch with mirror image branching, Tetralogy o... OMIM:601186
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy, Orbital craniosynostosis, Micrognathia, Dolichocephaly, Frontal bossing ORPHA:1538
Leopard Syndrome 3
Low posterior hairline, Few cafe-au-lait spots, Multiple lentigines, Curly hair OMIM:613707
Distal Deletion 19P
Hypoplasia of the maxilla, Conductive hearing impairment, Umbilical hernia, Low-set, posteriorly ... ORPHA:96129
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Simosa Craniofacial Syndrome
Low-set ears, High, narrow palate, Flat face, Long philtrum, Narrow mouth, Hearing abnormality, M... OMIM:182150
Cranioectodermal Dysplasia 4
Short distal phalanx of finger, Protruding ear, Smooth philtrum, Taurodontia, Sagittal craniosyno... OMIM:614378
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplastic scapulae, Rhizomelia, Conductive hearing impairment, Atresia of the external auditory... OMIM:602471
Noonan Syndrome 9
Sparse eyebrow, Curly hair OMIM:616559
Cowden Syndrome 5
Hypoplasia of the maxilla, Colonic diverticula, Hearing impairment, Furrowed tongue, Micrognathia... OMIM:615108
Auriculocondylar Syndrome 2B
Preauricular skin tag, Question mark ear, Micrognathia, Narrow mouth, Postauricular skin tag, Man... OMIM:620458
Trichothiodystrophy 2, Photosensitive
Tiger tail banding, Coarse hair OMIM:616390
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Long eyelashes, Alopecia, Sparse hair, Pigmentary retinopathy ORPHA:3363
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Macrotia, Recurrent otitis media, Tetralogy of Fallot, Micrognathia, Protruding ear, Persistent l... ORPHA:3304
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Pancreatic Agenesis-Holoprosencephaly Syndrome
Low-set ears, Hypoplasia of the zygomatic bone, Prominent occiput, Solitary median maxillary cent... ORPHA:556955
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Multiple Synostoses Syndrome 1
Bilateral conductive hearing impairment, Carpal synostosis, Thick upper lip vermilion, Lower limb... OMIM:186500
Ectodermal Dysplasia 13, Hair/Tooth Type
Sparse eyelashes, Thin eyebrow, Low anterior hairline, Brittle hair OMIM:617392
Ichthyosis With Alopecia, Eclabium, Ectropion, And Impaired Intellectual Development
Alopecia OMIM:242510
Palmoplantar Keratoderma-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2202
Nance-Horan Syndrome
Narrow face, Diastema, Supernumerary maxillary incisor, Mulberry molar, Screwdriver-shaped inciso... OMIM:302350
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Distal Monosomy 7Q36
Optic atrophy, Flat face, Abnormal calvaria morphology, Large face, Macrotia, Micrognathia, Short... ORPHA:1636
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Square face, Thick lower lip vermilion, Thick upper lip vermilion, Wide mouth, Brachycephaly, Man... OMIM:309545
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, At... ORPHA:185
Nablus Mask-Like Facial Syndrome
Low-set ears, Broad neck, Hypoplasia of the maxilla, Abnormality of the dentition, Joint contract... OMIM:608156
Aarskog-Scott Syndrome
Short 5th finger, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Cleft upper lip,... OMIM:305400
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Multiple rows of eyelashes, Facial hirsutism, Thick eyebrow, Curly eyelashes, Low posterior hairl... ORPHA:163654
Nasopalpebral Lipoma-Coloboma Syndrome
Low-set ears, Dolichocephaly, Hypoplasia of the maxilla, Cupped ear OMIM:167730
Arthrogryposis, Distal, Type 1A
Low-set ears, Webbed neck, Joint contracture of the hand, Congenital hip dislocation, Retrognathi... OMIM:108120
Clark-Baraitser syndrome
Genu recurvatum, Exaggerated median tongue furrow, Thick lower lip vermilion, Frontal bossing, Ge... OMIM:300602
Amelogenesis Imperfecta, Type Iv
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Baraitser-Winter Syndrome 2
Webbed neck, Hearing impairment, Long philtrum, Retrognathia, Trigonocephaly, Thin upper lip verm... OMIM:614583
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Alopecia, Sparse eyebrow, Sparse eyelashes, Nail dysplasia, Hypohidrosis OMIM:615704
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Enterocolitis, Hypoplasia of the maxilla, Micrognathia, Hearing impairment OMIM:301108
Noonan Syndrome 5
Sparse eyebrow, Small nail, Fine hair, Multiple lentigines, Curly hair, Cafe-au-lait spot OMIM:611553
Epidermolysis Bullosa, Junctional 5A, Intermediate
Alopecia of scalp, Nail dystrophy, Onychogryposis, Absent pubic hair, Absent axillary hair, Onych... OMIM:619816
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... OMIM:217095
Malan Syndrome
Narrow face, Midface retrusion, Retrognathia, Gingival overgrowth, Narrow mouth, Hyperplasia of t... OMIM:614753
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Dysmorphism-Cleft Palate-Loose Skin Syndrome
Narrow face, Trigonocephaly, Micrognathia, Thickened nuchal skin fold, Long face, Cleft palate ORPHA:1779
Catifa Syndrome
Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Increased overbite, Long ... OMIM:618761
14Q24.1Q24.3 Microdeletion Syndrome
Abnormal heart morphology, Ventricular septal defect, Truncus arteriosus, Atrial septal defect, P... ORPHA:401935
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Low-set ears, Trigonocephaly, Delayed eruption of permanent teeth, Wide mouth, Exaggerated cupid'... OMIM:618506
Immunodeficiency 112
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... OMIM:620449
Charge Syndrome
Low-set ears, Micrognathia, Sensorineural hearing impairment, Ventricular septal defect, Overridi... OMIM:214800
Stapes Ankylosis With Broad Thumbs And Toes
Short distal phalanx of finger, Conductive hearing impairment, Stapes ankylosis, Limited neck ran... OMIM:184460
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Abnormality of the inner... ORPHA:705
Ohdo Syndrome
Hearing impairment, Long philtrum, Widely spaced teeth, Stenosis of the external auditory canal, ... OMIM:249620
Conductive Deafness-Malformed External Ear Syndrome
Low-set ears, Conductive hearing impairment, Stenosis of the external auditory canal, Overfolded ... ORPHA:3216
Lambotte Syndrome
Narrow mouth, Atresia of the external auditory canal, Macrotia, Retrognathia OMIM:245552
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Low-set ears, Micrognathia, Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atr... OMIM:265380
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Narrow palate, Carious teeth, Narrow mouth, Thick lower lip vermilion ORPHA:457365
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Short tibia, Micrognathia, High palate, Peg-shaped max... ORPHA:2751
Distal Duplication 14Q
Abnormal aortic morphology, Patent ductus arteriosus, Hearing impairment ORPHA:1705
Holoprosencephaly
Abnormal antihelix morphology, Encephalocele, Short neck, Abnormal pinna morphology, Macrotia, Fl... ORPHA:2162
Xq28 (MECP2) duplication
Brachycephaly, Narrow mouth, Malar flattening, Macrotia DECIPHER:45
Schinzel-Giedion Syndrome
Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Micrognathia, Radioulnar s... ORPHA:798
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Deafness, Autosomal Dominant 50
Sensorineural hearing impairment, Tinnitus, Progressive sensorineural hearing impairment, Progres... OMIM:613074
Immunodeficiency, Common Variable, 4
Abnormal T cell count OMIM:613494
Cowden Syndrome 6
Hypoplasia of the maxilla, Colonic diverticula, Hearing impairment, Furrowed tongue, Micrognathia... OMIM:615109
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development
Low-set ears, Narrow palate, Prominent antihelix, Retrognathia, Long philtrum, Midface retrusion,... OMIM:604314
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Microglossia, Low-set, posteriorly rotated ears, Narrow internal auditory canal, Narrow mouth, Ab... ORPHA:990
Trisomy 17P
Low-set ears, Hearing impairment, Micrognathia, Narrow mouth, Malar flattening, Low posterior hai... ORPHA:261290
Branchioskeletogenital Syndrome
Carious teeth, Short neck, Abnormal midface morphology, Flat face, Hypoplasia of the maxilla, Dow... ORPHA:1299
Otopalatodigital Syndrome, Type I
Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, Dislocated radial... OMIM:311300
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Velocardiofacial Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Retrognathia, Umbilical h... OMIM:192430
Distal Duplication 6P
Low-set ears, Aplasia/Hypoplasia of the earlobes, Micrognathia, Narrow mouth, Short neck, Abnorma... ORPHA:1745
Fetal Akinesia Deformation Sequence 2
Low-set ears, Broad neck, Micrognathia, Tented upper lip vermilion, High palate, Cleft palate OMIM:618388
Filippi Syndrome
Optic atrophy, Serrated incisors, Abnormal dental morphology, Microdontia, Hypodontia, Thin vermi... OMIM:272440
Martsolf Syndrome 1
Low-set ears, Tooth malposition, Hypoplasia of the maxilla, Short toe, Long philtrum, Talipes val... OMIM:212720
Bazex-Dupre-Christol Syndrome
Coarse hair, Trichorrhexis nodosa, Pili torti, Hypohidrosis, Hyperpigmentation of the skin, Spars... OMIM:301845
Congenital Disorder Of Glycosylation, Type Iy
Joint dislocation, Widely spaced teeth, Micrognathia, Wide mouth, Macrotia OMIM:300934
Neutropenia-Monocytopenia-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2690
Pseudoprogeria Syndrome
Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse hair ORPHA:2985
Bardet-Biedl Syndrome 7
Narrow mouth, Malar flattening OMIM:615984
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Symphalangism, Proximal, 1A
Distal symphalangism of hands, Conductive hearing impairment, Stapes ankylosis, Carpal synostosis... OMIM:185800
Pfeiffer Syndrome
Coronal craniosynostosis, Hypoplasia of the maxilla, Shortening of all middle phalanges of the fi... OMIM:101600
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Low-set ears, Conductive hearing impairment, Hypoplasia of the zygomatic bone, Long philtrum, Pro... OMIM:618500
Crisponi Syndrome
Long philtrum, Camptodactyly of finger, Large face, Micrognathia, Narrow mouth, Full cheeks, High... ORPHA:1545
Cleft Palate-Large Ears-Small Head Syndrome
Short distal phalanx of finger, Macrotia, Micrognathia, Gingival overgrowth, Elfin facies, Protru... ORPHA:2013
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Mesomelia, Retrognathia, Elbow dislocation, Camptodactyly of finger, Low-set, posteriorly rotated... ORPHA:2631
Immunodeficiency 104
T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
High, narrow palate, Delayed eruption of teeth, Macrodontia, Sensorineural hearing impairment, Ta... ORPHA:3214
Braddock-Carey Syndrome 2
Atresia of the external auditory canal, Hearing impairment, Retrognathia, Wide mouth, Cleft palat... OMIM:619981
Angelman Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Widely spaced teeth, Protruding tongue, Brachyc... OMIM:105830
Branchiogenic Deafness Syndrome
Preauricular skin tag, Short distal phalanx of finger, Branchial fistula, Atresia of the external... ORPHA:50815
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Synophrys, Sparse eyebrow, Sparse hair, Curly hair OMIM:620075
Schöpf-Schulz-Passarge Syndrome
Alopecia, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Multiple Pterygium-Malignant Hyperthermia Syndrome
Narrow mouth, Plagiocephaly, Midface retrusion, Downturned corners of mouth, Abnormal mandible mo... ORPHA:2215
Acrofacial Dysostosis Syndrome Of Rodriguez
Low-set ears, Short tibia, 11 pairs of ribs, Micrognathia, Narrow mouth, Fibular hypoplasia, Shor... OMIM:201170
Elsahy-Waters Syndrome
Low-set ears, High palate, Increased cup-to-disc ratio, Hypoplasia of the maxilla, Midface retrus... OMIM:211380
Flynn-Aird Syndrome
Alopecia, Alopecia of scalp OMIM:136300
Raine Syndrome
Low-set ears, Natal tooth, Micrognathia, Narrow mouth, Protruding tongue, Neonatal death, Short n... OMIM:259775
Epidermolysis Bullosa, Junctional 1A, Intermediate
Palmar hyperhidrosis, Patchy alopecia, Nail dystrophy, Fragile nails OMIM:226650
Weaver-Williams Syndrome
Protruding ear, Narrow mouth, Cleft palate ORPHA:3448
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... OMIM:212050
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Pu... OMIM:616749
Acrodysostosis 1 With Or Without Hormone Resistance
Optic atrophy, Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Hearing... OMIM:101800
Liang-Wang Syndrome
Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Diastema, Gingiv... OMIM:618729
17P13.3 Microduplication Syndrome
Low-set ears, Congenital hip dislocation, Narrow mouth, Short neck, High palate, Frontal bossing ORPHA:217385
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Low-set ears, Webbed neck, Parachute mitral valve, Large earlobe, Tetralogy of Fallot, Patent for... OMIM:618316
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Sparse hair, Uncombable hair ORPHA:1264
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Midface retrusion, Premature osteoarthritis, Malar flattening, Sensorineural hearing impairment, ... OMIM:184840
Braddock-Carey Syndrome 1
Sparse hair, Curly hair OMIM:619980
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus
Open bite, Dental crowding, Hyperplasia of the maxilla OMIM:613671
Carey-Fineman-Ziter Syndrome 2
Low-set ears, High, narrow palate, Dental crowding, Velopharyngeal insufficiency, Downturned corn... OMIM:619941
Dyssegmental Dysplasia, Silverman-Handmaker Type
Flat face, Occipital encephalocele, Micromelia, Pterygium, Micrognathia, Narrow mouth, Malar flat... OMIM:224410
Non-Distal Duplication 10Q
Low-set, posteriorly rotated ears, Micrognathia, Brachycephaly, Everted lower lip vermilion, High... ORPHA:1695
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Low-set ears, Mandibular prognathia, Plagiocephaly, Midface retrusion, Downturned corners of mout... OMIM:619720
Ablepharon Macrostomia Syndrome
Hypoplasia of the maxilla, Atresia of the external auditory canal, Hearing impairment, Umbilical ... ORPHA:920
Cerebrofacioarticular Syndrome
Hypoplasia of the maxilla, Anal stenosis, Conductive hearing impairment, Anteriorly placed anus, ... ORPHA:314679
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Microcephaly-Micromelia Syndrome
Low-set ears, Absent thumb, Short tibia, Micromelia, Micrognathia, Narrow mouth, Humeroradial syn... OMIM:251230
Shprintzen-Goldberg Craniosynostosis Syndrome
Low-set ears, Narrow palate, Hypoplasia of the maxilla, Joint contracture of the hand, Conductive... OMIM:182212
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Cleft palate, Natal tooth, Abnormal mandible morphology, Torticollis OMIM:217150
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At... ORPHA:3384
Congenital Arthrogryposis With Anterior Horn Cell Disease
Low-set ears, Abnormal anterior horn cell morphology, Retrognathia, Micrognathia, Facial diplegia... OMIM:611890
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Chromosome 4Q21 Deletion Syndrome
Downturned corners of mouth, Long philtrum, Narrow mouth, Sensorineural hearing impairment, Dolic... OMIM:613509
Ck Syndrome
Narrow face, Dental crowding, Retrognathia, Polymicrogyria, Micrognathia, Malar flattening, Pachy... OMIM:300831
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Sacral hypertrichosis, Thoracic hypertrichosis, Lumbar hypertrichosis, Anterior cervical hypertri... OMIM:117850
Kagami-Ogata Syndrome
Hypoplasia of the maxilla, Retrognathia, Long philtrum, Micrognathia, Limb undergrowth, Frontal b... OMIM:608149
Fibrodysplasia Ossificans Progressiva
Alopecia ORPHA:337
Woolly Hair-Skin Fragility Syndrome
Woolly hair OMIM:620415
Amaurosis-Hypertrichosis Syndrome
Abnormal eyelash morphology, Coarse hair, Thick eyebrow, Synophrys ORPHA:1021
Cutis Laxa, Autosomal Recessive, Type Iia
Low-set ears, Congenital hip dislocation, Flat face, Carious teeth, Midface retrusion, Long philt... OMIM:219200
Barber-Say Syndrome
Low-set ears, Hypoplasia of the maxilla, Microtia, first degree, Dental malocclusion, Delayed eru... OMIM:209885
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Conical tooth, Microtia, first degree, Widely spaced teeth, Aplasia of the inner ear, Peg-shaped ... OMIM:610706
Erythrokeratodermia Variabilis
Alopecia, Irregular hyperpigmentation, Abnormal hair morphology, Generalized hirsutism, Hypermela... ORPHA:317
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Microglossia, Short tibia, Short thumb, Narrow mouth, Fibula... ORPHA:1972
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth, Sensorineural hearing impa... ORPHA:2027
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Low-set ears, Midface retrusion, Hearing impairment, Long philtrum, Prominent ear helix, Short to... OMIM:618659
Alazami Syndrome
Low-set ears, Widely spaced teeth, Malar flattening, Thick vermilion border, Short philtrum, Tria... OMIM:615071
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Low-set ears, Optic atrophy, Decreased motor nerve conduction velocity, Micrognathia, Thin upper ... OMIM:615419
Ear-Patella-Short Stature Syndrome
Low-set ears, Abnormality of the outer ear, Atresia of the external auditory canal, Hearing impai... ORPHA:2554
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Low-set ears, Umbilical hernia, Stenosis of the external auditory canal, Micrognathia, Open mouth... ORPHA:1516
Acrocardiofacial Syndrome
Low-set ears, Tetralogy of Fallot, Mitral stenosis, Ventricular septal defect, Truncus arteriosus... ORPHA:2008
Nemaline Myopathy 9
High palate, Micrognathia, Cleft palate OMIM:615731
Van Den Ende-Gupta Syndrome
Hypoplastic scapulae, Joint contracture of the hand, Micrognathia, Narrow mouth, Everted lower li... OMIM:600920
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Smith-Magenis Syndrome
Abnormality of the outer ear, Abnormality of the dentition, Abnormal nerve conduction velocity, M... OMIM:182290
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Low-set ears, Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Retrognathia, Mo... OMIM:300845
17P11.2 Microduplication Syndrome
Hearing impairment, Low-set, posteriorly rotated ears, Open bite, Abnormal dental morphology, Mic... ORPHA:1713
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Branchial fistula, Abnormal earlobe morphology, Malar flattening, Sensorine... ORPHA:261330
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Low-set ears, Flat face, Hearing impairment, Frontal bossing, Recurrent otitis media, Micrognathi... OMIM:613604
Intellectual Developmental Disorder, Autosomal Recessive 73
Low-set ears, Posteriorly rotated ears, Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Deafness, Progressive, With Stapes Fixation
Bilateral conductive hearing impairment, Stapes ankylosis OMIM:601449
Progressive Deafness With Stapes Fixation
Bilateral conductive hearing impairment, Stapes ankylosis ORPHA:3235
Oculoauriculovertebral Spectrum With Radial Defects
Preauricular skin tag, Abnormality of the middle ear ossicles, Conductive hearing impairment, Atr... ORPHA:2549
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities
Mandibular prognathia, Retrognathia, Long philtrum, Protruding ear, Thin upper lip vermilion, Eve... OMIM:619595
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Narrow face, Downturned corners of mouth, Long philtrum, Micrognathia, Narrow mouth, Sensorineura... ORPHA:391408
Mosaic Trisomy 20
Craniofacial asymmetry, Cleft lip, Long neck, Hearing impairment, Retrognathia, Micrognathia, Lim... ORPHA:1724
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Low-set ears, Notched primary central incisor OMIM:620062
Schilbach-Rott Syndrome
Bifid uvula, Micrognathia, Narrow mouth, Submucous cleft hard palate, Posteriorly rotated ears, M... OMIM:164220
Triploidy
Low-set, posteriorly rotated ears, Intestinal malrotation, Micrognathia, Narrow mouth, Short neck... ORPHA:3376
Alopecia-Intellectual Disability Syndrome
Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Sparse body hair ORPHA:2850
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Thin vermilion border, Micrognathia, Narrow mouth ORPHA:1046
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Abnormal T cell count, Abnormal B cell count OMIM:613493
Zechi-Ceide Syndrome
Low-set ears, Short distal phalanx of finger, Abnormal helix morphology, Cleft lip, Conductive he... ORPHA:217017
Goldberg-Shprintzen Syndrome
Low-set ears, Hypoplasia of the maxilla, Small hand, Polymicrogyria, Oligodontia, Aganglionic meg... OMIM:609460
Noonan Syndrome 8
Hyperpigmentation of the skin, Curly hair OMIM:615355
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Woolly hair OMIM:611528
Osteoglophonic Dysplasia
Low-set ears, Hypoplastic scapulae, Short neck, High palate, Short foot, Short metacarpal, Clover... OMIM:166250
Hyperleucine-Isoleucinemia
Sensorineural hearing impairment OMIM:238340
19P13.3 Microduplication Syndrome
Low-set ears, Hip subluxation, Micrognathia, Narrow mouth, Abnormal facial shape, Long face, Thic... ORPHA:447980
Maternal Uniparental Disomy Of Chromosome 9
Low-set ears, Micrognathia, Short neck, Elbow ankylosis, Osteochondrosis, Facial asymmetry, Patel... ORPHA:96183
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Conductive hearing impairment, Micrognathia, Joint contracture of the 5th finger, High palate, Sh... OMIM:248910
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Low-set ears, Mandibular prognathia, Hearing impairment, Frontal bossing, Scaphocephaly, Thin upp... OMIM:619989
Phaver Syndrome
Low-set ears, Aplasia/Hypoplasia of the earlobes, Conductive hearing impairment, Pulmonary artery... ORPHA:2876
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp... ORPHA:1330
Saethre-Chotzen Syndrome
Low-set ears, Lambdoidal craniosynostosis, Hearing impairment, Prominent crus of helix, Delayed c... OMIM:101400
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Low-set ears, Plagiocephaly, Intestinal malrotation, Periauricular skin pits, Increased nuchal tr... ORPHA:77300
Skin Creases, Congenital Symmetric Circumferential, 1
Low-set ears, Flat face, Long philtrum, Micrognathia, Narrow mouth, Short neck, Brachycephaly, Ov... OMIM:156610
Intellectual Disability And Myopathy Syndrome
Congenital hip dislocation, Flat face, Dental malocclusion, Limited elbow extension, Thin upper l... OMIM:619719
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Mesomelia, Micrognathia, Abnormal palate morphology, Tooth agenesis ORPHA:1277
Shprintzen-Goldberg Syndrome
Low-set ears, High, narrow palate, Hypoplasia of the maxilla, Conductive hearing impairment, Retr... ORPHA:2462
19P13.13 Microdeletion Syndrome
Low-set ears, Optic atrophy, Increased nuchal translucency, Narrow mouth, Malar flattening, Thin ... ORPHA:357001
Holoprosencephaly 9
Hypoplasia of the premaxilla, Underdeveloped tragus, Bilateral cleft palate, Short hard palate, S... OMIM:610829
Arthrogryposis, Distal, Type 5D
Congenital hip dislocation, Elbow flexion contracture, Furrowed tongue, Limited knee flexion, Mic... OMIM:615065
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Low-set ears, Short 5th finger, Small hand, Long philtrum, Macrodontia, Micrognathia, Narrow mout... OMIM:618443
Lowry-Maclean Syndrome
Craniosynostosis, Preauricular pit, Delayed eruption of teeth, Cleft palate OMIM:600252
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities
Low-set ears, Bifid uvula, Optic atrophy, Retrognathia, Thin upper lip vermilion, Coarse facial f... OMIM:620428
Short Stature-Wormian Bones-Dextrocardia Syndrome
Low-set ears, Delayed eruption of teeth, Tooth agenesis, Camptodactyly of finger, Micrognathia, W... ORPHA:2863
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Hyperpigmentation of the skin, Brittle hair ORPHA:50812
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair OMIM:256850
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Sys... ORPHA:2299
Microphthalmia With Limb Anomalies
Synostosis of joints, Hypoplasia of the premaxilla, Synostosis of carpal bones, Short tibia, Elbo... ORPHA:1106
Insulin-Like Growth Factor I, Resistance To
Low-set ears, Webbed neck, Small hand, Retrognathia, Long philtrum, Short finger, Micrognathia, N... OMIM:270450
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Acrocallosal Syndrome
Low-set ears, Hearing impairment, Everted upper lip vermilion, Narrow mouth, Open mouth, Protrudi... OMIM:200990
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypoplasia of the maxilla, Cleft lip, Conductive hearing impairment, Atresia of the external audi... OMIM:106260
Schwartz-Jampel Syndrome, Type 1
Low-set ears, Congenital hip dislocation, Joint contracture of the hand, Flat face, Micromelia, P... OMIM:255800
Wilson-Turner Syndrome
Small hand, Malar prominence, Micrognathia, Thin upper lip vermilion, Abnormal facial shape, Shor... ORPHA:3459
Congenital Disorder Of Glycosylation, Type Iig
Low-set ears, Small hand, Shallow acetabular fossae, Micrognathia, Narrow mouth, Short neck, High... OMIM:611209
Endocardial Fibroelastosis
Low-set, posteriorly rotated ears, Abnormal helix morphology, Micrognathia, Abnormal palate morph... ORPHA:2022
Syngap1-Related Developmental And Epileptic Encephalopathy
Narrow mouth, Abnormal facial shape, Triangular face, High palate, Thin vermilion border, Antever... ORPHA:544254
Sweeney-Cox Syndrome
Low-set ears, Crumpled ear, Hearing impairment, Velopharyngeal insufficiency, Micrognathia, Narro... OMIM:617746
Hypotrichosis Simplex Of The Scalp
Slow-growing scalp hair, Sparse scalp hair, Alopecia of scalp, Fine hair ORPHA:90368
Fetal Minoxidil Syndrome
Low-set, posteriorly rotated ears, Micrognathia, Ventricular septal defect, Umbilical hernia ORPHA:1918
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
High palate, Micrognathia, Macrotia, Facial palsy OMIM:608930
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Abnormal heart morphology, Decreased nerve conduction velocity, Patent foramen ovale, Ventricular... ORPHA:477817
Oculodentodigital Dysplasia
Carious teeth, Hearing impairment, Micrognathia, Short hallux, Non-midline cleft of the upper lip... ORPHA:2710
Odontotrichoungual-Digital-Palmar Syndrome
Abnormality of hair texture, Nail dysplasia, Hypopigmentation of the skin, Nail dystrophy OMIM:601957
Legius Syndrome
Low-set ears, High, narrow palate, Neurofibroma, Micrognathia, Low posterior hairline, Short neck... OMIM:611431
Cowden Syndrome 1
Hypoplasia of the maxilla, Colonic diverticula, Hearing impairment, Furrowed tongue, Micrognathia... OMIM:158350
Myhre Syndrome
Craniofacial hyperostosis, Hypoplasia of the maxilla, Bifid uvula, Gingival cleft, Hearing impair... ORPHA:2588
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Portal hypertension, Ventricular septal defect, Truncus arteriosus OMIM:616589
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Microretrognathia, Hearing impairment, Short femoral neck, Tooth agenesis, Knee di... OMIM:618363
Neuralgic Amyotrophy
Bifid uvula, Narrow mouth, Redundant neck skin, Round face, Cleft palate ORPHA:2901
X-Linked Intellectual Disability Due To Gria3 Mutations
Genu recurvatum, Macrodontia of permanent maxillary central incisor, Narrow palate, Thick vermili... ORPHA:364028
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Protruding ear, Short philtrum, Mandibular prognathia, Cleft palate, Prominent metopic ridge ORPHA:85317
Premature Aging Syndrome, Penttinen Type
Short distal phalanx of finger, Hypoplasia of the maxilla, Midface retrusion, Delayed eruption of... OMIM:601812
Glass Syndrome
Low-set ears, Conical tooth, Dental crowding, Midface retrusion, Long philtrum, Frontal bossing, ... OMIM:612313
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea... OMIM:619846
Isotretinoin Syndrome
Abnormality of the outer ear, Micrognathia, Spina bifida occulta, Biparietal narrowing, Cleft pal... ORPHA:2305
Facial Paresis, Hereditary Congenital, 3
Low-set ears, Midface retrusion, Downturned corners of mouth, Micrognathia, Open mouth, Tented up... OMIM:614744
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Hearing impairment, Pursed lips, Narrow mouth, Hip contracture, Sh... OMIM:193700
Feingold Syndrome Type 1
Interrupted aortic arch, Conductive hearing impairment, Abnormal heart morphology, Multiple muscu... ORPHA:391641
Seckel Syndrome 5
Low-set ears, Abnormal cortical gyration, Retrognathia, Selective tooth agenesis, 11 pairs of rib... OMIM:613823
Congenital Syphilis
Optic atrophy, Hearing impairment, Hyperplasia of the maxilla, Large placenta, Synovitis, Osteoch... ORPHA:499009
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Low posterior hairline, Thin upper lip vermilion, Coarse facial features, ... ORPHA:2429
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Abnormal calvaria morphology, Synostosis of carpal bones, Camptodactyly of finger, Micrognathia, ... ORPHA:1323
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... OMIM:618300
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Low-set ears, Dental crowding, Retrognathia, Thick lower lip vermilion, Persistence of primary te... OMIM:618342
3Q27.3 Microdeletion Syndrome
Low-set ears, Dental crowding, Narrow mouth, Thin upper lip vermilion, Short philtrum, Triangular... ORPHA:397695
Chromosome 9P Deletion Syndrome
Low-set ears, High, narrow palate, Narrow palate, Prominent antihelix, Retrognathia, Long philtru... OMIM:158170
Craniofacioskeletal Syndrome
Interrupted aortic arch, Micrognathia, Ventricular septal defect, Atrial septal defect, Posterior... OMIM:300712
Tetrasomy 15Q26
Low-set ears, Microretrognathia, Cupped ear, Atrial septal defect, Hydrocephalus, Hypoplastic aor... OMIM:614846
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Hearing impairment, Downturned corners of mouth, Micrognathia, Narrow mouth, Sensorineural hearin... OMIM:616817
Microcephaly-Deafness-Intellectual Disability Syndrome
Low-set ears, Preauricular skin tag, Cupped ear, Micrognathia, Abnormal palate morphology, Sensor... ORPHA:2533
Charge Syndrome
Aplasia/Hypoplasia of the earlobes, Hearing impairment, Narrow mouth, Abnormal cranial nerve morp... ORPHA:138
Frank-Ter Haar Syndrome
Genu recurvatum, Delayed eruption of teeth, Umbilical hernia, Camptodactyly of finger, Wide mouth... ORPHA:137834
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Low-set ears, Bifid uvula, Small hand, Cleft lip, Plagiocephaly, Downturned corners of mouth, Lon... OMIM:618089
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Thin upper lip vermilion, Hyperplasia of the maxilla OMIM:618587
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism
Alopecia OMIM:203550
Keratoderma Hereditarium Mutilans
Alopecia, Abnormality of the nail, Abnormal toenail morphology ORPHA:494
Noonan Syndrome 7
Low posterior hairline, Hyperhidrosis, Curly hair OMIM:613706
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Ciliary Dyskinesia, Primary, 37
Right aortic arch, Situs inversus totalis, Hearing impairment, Dextrocardia OMIM:617577
Amyotrophy, Hereditary Neuralgic
Low-set ears, Brachial plexus neuropathy, Narrow mouth, Axonal degeneration, Peripheral axonal de... OMIM:162100
Idiopathic Trachyonychia
Toenail dysplasia, Fingernail dysplasia, Ridged nail, Vitiligo, Nail dystrophy, Patchy alopecia, ... ORPHA:79153
Tooth Agenesis, Selective, X-Linked, 1
Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ... OMIM:313500
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Sensorineural hearing impairment OMIM:608653
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Abnormality of the dentition, Short distal phalanx of finger, Microretrognathia, Flat face, Campt... ORPHA:2994
Chromosome 6Pter-P24 Deletion Syndrome
Low-set ears, Dental crowding, Midface retrusion, Cleft upper lip, Umbilical hernia, Frontal boss... OMIM:612582
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Low-set ears, Open mouth, Malar flattening, High palate, Cleft palate OMIM:620021
6Q25 Microdeletion Syndrome
Plagiocephaly, Long philtrum, Camptodactyly of finger, Low-set, posteriorly rotated ears, Microgn... ORPHA:251056
Meier-Gorlin Syndrome 1
Low-set ears, Small hand, Joint contracture of the hand, Atresia of the external auditory canal, ... OMIM:224690
Deafness, Autosomal Recessive 77
Tinnitus, Abnormal vestibular function, Bilateral sensorineural hearing impairment OMIM:613079
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Hearing impairment, Progressive hearing impairment, ... OMIM:611572
Smith-Kingsmore Syndrome
Cafe-au-lait spot, Curly hair OMIM:616638
Split Lower Lip
Abnormality of the dentition, Narrow maxilla, Abnormal lower lip morphology, Lower lip pit OMIM:183400
Basilar Impression, Primary
Craniofacial asymmetry, Abnormal cervical myelogram, Short neck, Horner syndrome, Platybasia OMIM:109500
Meier-Gorlin Syndrome 3
Low-set ears, Hypoplasia of the maxilla, Microretrognathia, Patellar hypoplasia, Micrognathia, Na... OMIM:613803
Tonne-Kalscheuer Syndrome
Narrow face, Velopharyngeal insufficiency, Downturned corners of mouth, Widely spaced teeth, Micr... OMIM:300978
Peeling Skin Syndrome 1
Onycholysis, Palmoplantar hyperhidrosis, Nail dystrophy, Brittle hair OMIM:270300
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Low-set ears, Pursed lips, Long philtrum, Micrognathia, Narrow mouth, Smooth philtrum, Short neck... ORPHA:562528
Mohr-Tranebjaerg Syndrome
Abnormal vestibular function, Optic atrophy, Prelingual sensorineural hearing impairment, Global ... ORPHA:52368
8Q12 Microduplication Syndrome
Long philtrum, Abnormal cranial nerve morphology, Narrow mouth, Sensorineural hearing impairment,... ORPHA:228399
Multicentric Osteolysis, Nodulosis, And Arthropathy
Ankle flexion contracture, Hypoplasia of the maxilla, Delayed eruption of teeth, Carpal osteolysi... OMIM:259600
Melanocytic Nevus Syndrome, Congenital
Long philtrum, Open mouth, Prominence of the premaxilla, Deep philtrum, Round face, Everted lower... OMIM:137550
Nasopalpebral Lipoma-Coloboma Syndrome
Low-set ears, Hypoplasia of the maxilla, Cupped ear, Abnormality of cartilage of external ear, Do... ORPHA:2399
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Tessier cleft, Cranium bifidum occultum, Hypoplasia of the frontal bone, Hypoplasia of the maxill... ORPHA:306542
Uruguay Faciocardiomusculoskeletal Syndrome
Low-set ears, Broad neck, Joint contracture of the hand, Congenital hip dislocation, Retrognathia... OMIM:300280
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Hearing impairment, Gen... ORPHA:49042
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Low-set ears, Small hand, Joint contracture of the hand, Narrow mouth, Sensorineural hearing impa... OMIM:235510
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Abnormality of the dentition, Hearing impairment, Camptodactyly of finger, Abnormal dental enamel... ORPHA:3220
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
High, narrow palate, Hypoplasia of the maxilla, Plagiocephaly, Long philtrum, Umbilical hernia, C... ORPHA:1101
Coffin-Siris Syndrome 6
Low-set ears, High, narrow palate, Plagiocephaly, Conductive hearing impairment, Retrognathia, Fr... OMIM:617808
Alpha-Heavy Chain Disease
Alopecia ORPHA:100025
Craniofacial-Deafness-Hand Syndrome
Flat face, Hypoplasia of the maxilla, Malar flattening, Sensorineural hearing impairment OMIM:122880
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Absent nipple, Absent hair, Anhidrosis, Hypohidrosis, Brittle hair, Sparse hair OMIM:614940
8Q21.11 Microdeletion Syndrome
Low-set ears, Abnormality of the dentition, Hearing impairment, Downturned corners of mouth, Camp... ORPHA:284160
Ravine Syndrome
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei... OMIM:613854
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Alopecia totalis, Nail dystrophy ORPHA:1366
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Low-set ears, Long neck, Retrognathia, Micrognathia, Narrow mouth, Protruding ear, Short neck, Hi... OMIM:301091
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Low-set ears, Abnormality of the outer ear, Small hand, Micrognathia, Narrow mouth, Short neck, A... ORPHA:251028
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Bicus... OMIM:618845
Beare-Stevenson Cutis Gyrata Syndrome
Bifid uvula, Narrow palate, Optic atrophy, Natal tooth, Atresia of the external auditory canal, M... OMIM:123790
Robin Sequence With Cleft Mandible And Limb Anomalies
Low-set ears, Short tibia, Cleft mandible, Micrognathia, Narrow mouth, Short hallux, High palate,... OMIM:268305
Developmental And Speech Delay Due To Sox5 Deficiency
Optic atrophy, Dental crowding, Exaggerated median tongue furrow, Hyperplasia of the maxilla, Ver... ORPHA:313892
Oculodentodigital Dysplasia
Broad alveolar ridges, Hip dislocation, Carious teeth, Conductive hearing impairment, Selective t... OMIM:164200
Aminopterin Syndrome Sine Aminopterin
Low-set ears, Joint contracture of the hand, Short thumb, Umbilical hernia, Frontal bossing, Micr... OMIM:600325
Trichothiodystrophy 4, Nonphotosensitive
Small nail, Trichorrhexis nodosa, Concave nail, Nail dystrophy, Sparse eyelashes, Nail dysplasia,... OMIM:234050
Deafness-Infertility Syndrome
Sensorineural hearing impairment ORPHA:94064
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Cafe-au-lait spot, Hypopigmented skin patches, Curly hair ORPHA:457485
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Sparse hair, Brittle hair, Coarse hair ORPHA:1883
Fg Syndrome 3
Sparse hair, Frontal upsweep of hair, Fine hair OMIM:300406
3-Hydroxyisobutyric Aciduria
Triangular face, Micrognathia, Long philtrum, Microtia ORPHA:939
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Ventricular septal defect, Atrial septal defect, Hydrocephalus, Heart mu... ORPHA:163979
Absence Of The Pulmonary Artery
Atrial flutter, Abnormal coronary artery morphology, Congestive heart failure, Abnormal EKG, Redu... ORPHA:980
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Fibrochondrogenesis 1
Low-set ears, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Narrow mouth, Shor... OMIM:228520
Desmosterolosis
Low-set ears, Bifid uvula, Lissencephaly, Abnormal cortical gyration, Retrognathia, Abnormal earl... ORPHA:35107
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Plagiocephaly, Downturned corners of mouth, Malar flattening, Ectopic anus, Aplasia/Hypoplasia of... ORPHA:94066
Distal Duplication 5Q
Low-set ears, Flat face, Carious teeth, Absent thumb, Long philtrum, Micrognathia, Narrow mouth, ... ORPHA:96097
Bohring-Opitz Syndrome
Low-set ears, Micrognathia, Narrow mouth, Bilateral cleft palate, Delayed peripheral myelination,... OMIM:605039
Distal Deletion 17Q
Optic atrophy, Small hand, Micromelia, Aplasia/Hypoplasia of the uvula, Low-set, posteriorly rota... ORPHA:1597
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Mosaic Trisomy 16
Craniofacial asymmetry, Short forearm, Meckel diverticulum, Hearing impairment, Anteriorly placed... ORPHA:1708
Harrod Syndrome
Narrow face, Dental malocclusion, Narrow mouth, Protruding ear, High palate, Long face ORPHA:2115
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Low-set ears, Unbalanced atrioventricular canal defect, Thoracic aortic aneurysm, Dextrotransposi... OMIM:619657
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Low-set ears, Flat occiput, Long philtrum, Micrognathia, Malar flattening, Thin upper lip vermili... ORPHA:357175
Intellectual Developmental Disorder, Autosomal Recessive 50
Sensorineural hearing impairment OMIM:616460
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Micrognathia, Abnormal aortic morphology, Abnormality of the pulmonary arter... ORPHA:1166
Intellectual Developmental Disorder, Autosomal Recessive 35
Low-set ears, Flat occiput, Downturned corners of mouth, Long philtrum, Micrognathia, Malar flatt... OMIM:615162
Phenobarbital Embryopathy
Low-set ears, Tetralogy of Fallot, Malar flattening, Abnormal mitral valve morphology, Mandibular... ORPHA:1919
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Abnormality of primary teeth, Tented upper lip vermilion, Thin upper lip vermilion, Facial asymme... ORPHA:438216
Robinow Syndrome, Autosomal Dominant 2
Hearing impairment, Cleft soft palate, Micrognathia, Sensorineural hearing impairment, Midface re... OMIM:616331
Temtamy Syndrome
Low-set ears, Short toe, Thick lower lip vermilion, Micrognathia, Abnormal palate morphology, Coa... ORPHA:1777
Acrocraniofacial Dysostosis
Short distal phalanx of finger, Abnormality of the middle ear ossicles, Conductive hearing impair... ORPHA:949
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Sensorineural hearing impairment, Hydrocephalus, Abnormal cardiac septum... ORPHA:250989
Naxos Disease
Subungual hyperkeratosis, Sparse eyebrow, Sparse body hair, Nail dystrophy, Onycholysis, Curly ha... OMIM:601214
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Developmental And Epileptic Encephalopathy 80
Low-set ears, Short distal phalanx of finger, Hearing impairment, Long philtrum, Polymicrogyria, ... OMIM:618580
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Ankle flexion contracture, Dental crowding, Retrognathia, Elbow flexion contracture, Micrognathia... OMIM:617468
Deafness, Autosomal Dominant 23
Conductive hearing impairment, Sensorineural hearing impairment OMIM:605192
Congenital Ichthyosiform Erythroderma
Alopecia, Hypohidrosis, Abnormality of the nail ORPHA:79394
Otopalatodigital Syndrome Type 2
Low-set ears, Synostosis of carpal bones, Hearing impairment, Elbow dislocation, Carpal synostosi... ORPHA:90652
Alopecia-Intellectual Disability Syndrome 4
Alopecia OMIM:618840
Immunodeficiency 68
Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia OMIM:612260
Van Bogaert-Hozay Syndrome
Tooth malposition, Micrognathia, Abnormal pinna morphology, Distal ulnar hypoplasia OMIM:277150
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta, Facial palsy OMIM:107550
Cerebellofaciodental Syndrome
Low-set ears, Macrodontia of permanent maxillary central incisor, Preauricular skin tag, Dental m... OMIM:616202
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Microretrognathia, Hearing impairment, Tetralogy of Fallot, Atrioventricula... ORPHA:508498
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Micrognathia, Knee flexion contracture, Absent uvula, Dolic... OMIM:616531
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio OMIM:617006
Coffin-Siris Syndrome 2
Short distal phalanx of finger, Delayed eruption of teeth, Hearing impairment, Long philtrum, Thi... OMIM:614607
Ectodermal Dysplasia 9, Hair/Nail Type
Abnormal sweat gland morphology, Abnormal sebaceous gland morphology, Atrichia, Absent hair, Nail... OMIM:614931
Oral Submucous Fibrosis
Abnormal oral cavity morphology, Cheilitis, Narrow mouth, Trismus ORPHA:357154
Mcdonough Syndrome
Dental malocclusion, Low-set, posteriorly rotated ears, Open bite, Micrognathia, Abnormal palate ... ORPHA:2471
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair ORPHA:2221
Alopecia Universalis
Alopecia universalis, Vitiligo, Absent eyelashes, Patchy alopecia, Absent eyebrow, Abnormality of... ORPHA:701
Dyssegmental Dysplasia, Silverman-Handmaker Type
Low-set ears, Flat face, Micromelia, Pterygium, Micrognathia, Narrow mouth, Encephalocele, Short ... ORPHA:1865
Hallermann-Streiff Syndrome
Low-set ears, Natal tooth, Micrognathia, Narrow mouth, Everted lower lip vermilion, High palate, ... OMIM:234100
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Flat face, Hypoplastic cervical vertebrae, Retrognathia, Elbow dislocation, Knee dislocation, Adv... OMIM:620269
Coffin-Siris Syndrome 3
Hearing impairment, Long philtrum, Umbilical hernia, Wide mouth, Coarse facial features, Thick ve... OMIM:614608
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Flat face, Conductive hearing impairment, Genu valgum, Narrow mouth, Round face OMIM:132450
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Sparse scalp hair, Fine hair ORPHA:2324
Marbach-Rustad Progeroid Syndrome
Midface retrusion, Eruption failure, Micrognathia, Narrow mouth, Delayed eruption of primary teet... OMIM:619322
17Q24.2 Microdeletion Syndrome
Broad neck, Tooth malposition, Otosclerosis, Midface retrusion, Abnormality of the ankle, Upper l... ORPHA:529962
Osteopathia Striata-Cranial Sclerosis Syndrome
Low-set ears, High, narrow palate, Bifid uvula, Flat face, Conductive hearing impairment, Delayed... ORPHA:2780
Dermatopathia Pigmentosa Reticularis
Hypohidrosis, Alopecia of scalp, Nail dystrophy, Reticular hyperpigmentation OMIM:125595
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Plagiocephaly, Tooth agenesis, Abnormality of the wrist, Micrognathia, Abnormal palate morphology... ORPHA:2063
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Stomach cancer, Cleft palate OMIM:137215
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Splenogonadal Fusion With Limb Defects And Micrognathia
Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors, Stillbirth OMIM:183300
Stickler Syndrome, Type Ii
High, narrow palate, Bifid uvula, Midface retrusion, Micrognathia, Malar flattening, Sensorineura... OMIM:604841
Marshall Syndrome
Low-set ears, Bifid uvula, Macrodontia of permanent maxillary central incisor, Midface retrusion,... OMIM:154780
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Low-set ears, Hearing impairment, Retrognathia, Large earlobe, Redundant neck skin, Ventricular s... OMIM:301056
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyebrow, Nail dystrophy, Sparse eyelashes, Nail dysplasia, Scarring alopecia of ... OMIM:612843
Distal Deletion 10P
Webbed neck, Hearing impairment, Low-set, posteriorly rotated ears, Micrognathia, Hearing abnorma... ORPHA:1580
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Preauricular skin tag, Hyperplasia of the maxilla, Micrognathia, High palate, Macrotia OMIM:620194
Stickler Syndrome
Hearing impairment, Open bite, Micrognathia, Genu valgum, Sensorineural hearing impairment, Short... ORPHA:828
Temple-Baraitser Syndrome
Short distal phalanx of finger, Everted upper lip vermilion, Delayed eruption of teeth, Long phil... ORPHA:420561
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Elbow dislocation, Abnorma... ORPHA:3236
Craniosynostosis, Herrmann-Opitz Type
Webbed neck, Micromelia, Micrognathia, Abnormal antihelix morphology, Malar flattening, Turriceph... ORPHA:2145
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Atrichia, Nail dystrophy, Spotty hypopigmentation, Hyperpigmentation of the skin, Conge... ORPHA:1867
Pachyonychia Congenita 2
Subungual hyperkeratosis, Dry hair, Sparse eyebrow, Nail dystrophy, Nail dysplasia, Palmoplantar ... OMIM:167210
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Abnormal vestibular function, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Ventricu... OMIM:617992
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Flat face, Long philtrum, Recurrent otitis media, Micrognathia, Wide mouth, Oligodontia, Smooth p... OMIM:602562
Alazami-Yuan Syndrome
Dental crowding, Long philtrum, Narrow mouth, Thin upper lip vermilion, High palate OMIM:617126
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Dental crowding, Midface retrusion, Long philtrum, Persistent open anterior fontanelle, Narrow mo... OMIM:615539
Primary Ciliary Dyskinesia
Conductive hearing impairment, Hearing impairment, Atrial situs ambiguous, Recurrent otitis media... ORPHA:244
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Low-set ears, Flat face, Hypoplasia of the maxilla, Cleft upper lip, Recurrent otitis media, Micr... OMIM:213980
Perlman Syndrome
Low-set ears, High, narrow palate, Retrognathia, Abnormal upper lip morphology, Micrognathia, Ope... ORPHA:2849
Hypohidrotic Ectodermal Dysplasia
Abnormality of the dentition, Hypoplasia of the maxilla, Xerostomia, Tooth agenesis, Abnormal den... ORPHA:238468
Zechi-Ceide Syndrome
Short distal phalanx of finger, Midface retrusion, Cleft upper lip, Stenosis of the external audi... OMIM:612916
Baller-Gerold Syndrome
Finger aplasia, Narrow face, Aplasia/Hypoplasia of the radius, Conductive hearing impairment, Bra... ORPHA:1225
Marden-Walker Syndrome
Low-set ears, High, narrow palate, Joint contracture of the hand, Long philtrum, Micrognathia, Na... OMIM:248700
Lateral Meningocele Syndrome
Low-set ears, Craniofacial hyperostosis, Atresia of the external auditory canal, Micrognathia, Se... ORPHA:2789
Hereditary Mucoepithelial Dysplasia
Alopecia, Sparse hair, Fine hair ORPHA:1839
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Distal 22Q11.2 Microduplication Syndrome
Low-set ears, Abnormal helix morphology, Micrognathia, Abnormal antihelix morphology, Low posteri... ORPHA:261337
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Low-set ears, Webbed neck, Long philtrum, Micrognathia, Acetabular dysplasia, Low posterior hairl... OMIM:616549
Immunodeficiency, Common Variable, 11
Abnormal T cell count, Decreased proportion of class-switched memory B cells OMIM:615767
Developmental And Epileptic Encephalopathy 70
Low-set ears, Narrow mouth OMIM:618298
Classic Mycosis Fungoides
Alopecia, Irregular hyperpigmentation, Abnormality of the nail, Hypopigmented skin patches ORPHA:2584
Potocki-Lupski Syndrome
Mandibular prognathia, Dental malocclusion, Hearing impairment, Dental crowding, Trigonocephaly, ... OMIM:610883
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Rhizomelia, Midface retrusion, Micromelia, Micrognathia, Sensorineural hear... ORPHA:440354
Larsen-Like Syndrome
Low-set ears, Flat face, Dental malocclusion, Conductive hearing impairment, Joint dislocation, R... OMIM:608545
Lambert Syndrome
Preauricular skin tag, Wide mouth, Malar flattening OMIM:245550
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failu... ORPHA:2326
Cardiocranial Syndrome, Pfeiffer Type
Low-set ears, High, narrow palate, Bifid uvula, Contracture of the proximal interphalangeal joint... ORPHA:2872
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Ope... ORPHA:453504
Bartsocas-Papas Syndrome
Synostosis of joints, Popliteal pterygium, Absent thumb, Micrognathia, Narrow mouth, Median cleft... ORPHA:1234
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Ope... ORPHA:352665
Sonoda Syndrome
Round face, Narrow mouth OMIM:270460
Satb2-Associated Syndrome Due To A Pathogenic Variant
Bifid uvula, Abnormality of the dentition, Long philtrum, Micrognathia, Thin upper lip vermilion,... ORPHA:576283
Noonan Syndrome 14
Sparse eyebrow, Low posterior hairline, Hyperhidrosis, Curly hair, Sparse hair OMIM:619745
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Broad neck, Bifid uvula, Midface retrusion, Stenosis of the external auditory canal, Micrognathia... OMIM:606164
Hypomelanosis Of Ito
Alopecia, Macular hypopigmented whorls, streaks, and patches OMIM:300337
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Pulmonary artery atresi... ORPHA:99050
Trisomy 1Q
Low-set ears, Abnormality of the outer ear, Microretrognathia, Camptodactyly of finger, Increased... ORPHA:261344
Trichohepatoenteric Syndrome 2
Sparse hair, Trichorrhexis nodosa, Uncombable hair, Brittle hair, Woolly hair OMIM:614602
Cerebellar-Facial-Dental Syndrome
Low-set ears, Macrodontia of permanent maxillary central incisor, Dental malocclusion, Midface re... ORPHA:444072
Heterotaxy, Visceral, 1, X-Linked
Low-set ears, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Le... OMIM:306955
Alg3-Cdg
Hearing impairment, Cardiomyopathy, Coarctation of the descending aortic arch, Abnormal pinna mor... ORPHA:79321
Polyvalvular Heart Disease Syndrome
Low-set ears, Dental crowding, Micrognathia, Short philtrum, Long face, Dolichocephaly, High pala... ORPHA:228410
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Curly hair ORPHA:85184
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Low-set ears, Midface retrusion, Widely spaced teeth, Narrow mouth, Malar flattening, Tented uppe... OMIM:300260
Say Syndrome
Short distal phalanx of finger, Micrognathia, Cleft palate, Macrotia OMIM:181180
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Small hand, Recurrent otitis media, Micrognathia, Short philtrum, High palate, Short foot ORPHA:254531
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Low-set, posteriorly rotated ears, Narrow mouth, Thin vermilion border ORPHA:2370
Trisomy 12P
Low-set ears, Flat face, Downturned corners of mouth, Micrognathia, Abnormal antihelix morphology... ORPHA:1699
Lichen Planopilaris
Abnormal fingernail morphology, Alopecia, Onycholysis, Hypopigmented skin patches ORPHA:525
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Low-set ears, Optic nerve hypoplasia, Everted upper lip vermilion, Micrognathia, Gingival overgro... OMIM:618381
Postaxial Acrofacial Dysostosis
Cupped ear, Conductive hearing impairment, Camptodactyly of finger, Low-set, posteriorly rotated ... ORPHA:246
Distal Triplication 15Q
Low-set ears, Abnormal helix morphology, Cupped ear, Retrognathia, Abnormal heart morphology, Mic... ORPHA:314588
Cronkhite-Canada Syndrome
Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Generalized hyper... ORPHA:2930
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Curly hair OMIM:300986
Autosomal Recessive Stickler Syndrome
Flat face, Genu valgum, Micrognathia, Malar flattening, Sensorineural hearing impairment, Cleft p... ORPHA:250984
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Trichotillomania
Alopecia OMIM:613229
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Long eyelashes, Fine hair, Hyperhidrosis, High anterior hairline ORPHA:231137
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Alopecia, Yellow nails, Sparse lateral eyebrow, Ridged nail, Nail dystrophy, Onycholysis OMIM:614564
Hypoglossia-Hypodactylia
Microglossia, Retrognathia, Adactyly, Aglossia, Micrognathia, Narrow mouth OMIM:103300
Ectodermal Dysplasia/Skin Fragility Syndrome
Alopecia of scalp, Nail dystrophy, Absent eyelashes, Dystrophic fingernails, Absent eyebrow, Anhi... OMIM:604536
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Micrognathia, Narrow mouth, Missing ribs, Orofacial cleft, Tetraamelia, Anal atres... ORPHA:3301
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Abnormal sweat gland morphology, Alopecia, Absent eyelashes, Absent eyebrow, Abnormality of the n... OMIM:607823
Feingold Syndrome 1
Low-set ears, Interrupted aortic arch, Hearing impairment, Micrognathia, Ventricular septal defec... OMIM:164280
Ohdo Syndrome, X-Linked
Low-set ears, Hearing impairment, Long philtrum, Widely spaced teeth, Short thumb, Stenosis of th... OMIM:300895
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Abnormal oral cavity morphology, Round face, Narrow mouth ORPHA:1355
Mucolipidosis Type Iii
Craniofacial hyperostosis, Prominent occiput, Hearing abnormality, Coarse facial features, Abnorm... ORPHA:577
Noonan Syndrome 4
Sparse eyebrow, Blue irides, High anterior hairline, Curly hair OMIM:610733
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Dental crowding, Micrognathia, Narrow mouth, Sensorineural hearing impairment, Bird-like facies OMIM:615381
Rhizomelic Chondrodysplasia Punctata, Type 1
Flat face, Rhizomelia, Micrognathia, Malar flattening, Sensorineural hearing impairment, Frontal ... OMIM:215100
Yuan-Harel-Lupski Syndrome
Aortic root aneurysm, Hearing impairment, Decreased nerve conduction velocity, Ventricular septal... OMIM:616652
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Bifid uvula, Flat face, Conductive hearing impairment, Delayed eruption of teeth, Dental crowding... OMIM:300990
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Hepatic cysts, Truncu... OMIM:615415
Chromosome 6Q11-Q14 Deletion Syndrome
Low-set ears, Long philtrum, Umbilical hernia, Micrognathia, Thin upper lip vermilion, Smooth phi... OMIM:613544
Ichthyosis, Congenital, Autosomal Recessive 1
Nail dysplasia, Alopecia, Sparse hair, Nail dystrophy OMIM:242300
Diabetic Embryopathy
Spinal dysraphism, Hearing impairment, Low-set, posteriorly rotated ears, Tetralogy of Fallot, Mi... ORPHA:1926
Bartsocas-Papas Syndrome 2
Low-set ears, Axillary pterygium, Small hand, Popliteal pterygium, Micrognathia, Prominent occipu... OMIM:619339
Tolchin-Le Caignec Syndrome
Low-set ears, Abnormal vestibular function, Umbilical hernia, Oxycephaly, Scaphocephaly, Microgna... OMIM:618971
Suleiman-El-Hattab Syndrome
Low-set ears, Webbed neck, Preauricular skin tag, Microretrognathia, Hearing impairment, Downturn... OMIM:618950
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Atresia of the external auditory canal, Midface retrusion, Microgn... OMIM:300946
22Q11.2 Deletion Syndrome
Low-set ears, Carious teeth, Hearing impairment, Micrognathia, Ventricular septal defect, Short n... ORPHA:567
Trichothiodystrophy 8, Nonphotosensitive
Trichorrhexis nodosa, Woolly hair, Sparse eyebrow, Sparse hair OMIM:619691
Lymphangiectasia, Intestinal
Lymphopenia, Stillbirth OMIM:152800
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot... OMIM:615779
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy, Sensorineural hearing impairment ORPHA:85297
Zimmermann-Laband Syndrome
Bifid uvula, Large fleshy ears, Micrognathia, Wide mouth, Supernumerary tooth, Sensorineural hear... ORPHA:3473
Abruzzo-Erickson Syndrome
Flat face, Conductive hearing impairment, Short toe, Macrotia, Malar flattening, Abnormal palate ... ORPHA:921
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Low-set ears, Micrognathia, Narrow mouth, Genu valgum, Low posterior hairline, Radioulnar synosto... OMIM:245600
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Macrodontia of permanent maxillary central incisor, Open mouth, Hearing impairment, Thick vermili... OMIM:620114
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Sparse eyebrow, Congenital alopecia totalis, Alopecia of scalp, Absent pubic hair, Absent axillar... ORPHA:2269
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus OMIM:604381
Distal Duplication 18Q
Carious teeth, Camptodactyly of finger, Low-set, posteriorly rotated ears, Abnormal dental morpho... ORPHA:1716
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Adult onset sensorineural hearing impairment, Sensorineural ... ORPHA:1368
Isolated Cleft Lip
Conductive hearing impairment, Velopharyngeal insufficiency, Non-midline cleft of the upper lip, ... ORPHA:199302
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Low-set ears, Preauricular skin tag, Mandibular prognathia, Plagiocephaly, Midface retrusion, Hea... ORPHA:369891
Rhombencephalosynapsis
Microretrognathia, Low-set, posteriorly rotated ears, Narrow mouth, Aganglionic megacolon, Trache... ORPHA:59315
Otosclerosis 11
Absence of acoustic reflex, Otosclerosis, Conductive hearing impairment, Sensorineural hearing im... OMIM:620576
Trisomy 8Q
Camptodactyly of finger, Myelomeningocele, Low-set, posteriorly rotated ears, Micrognathia, Protr... ORPHA:1752
Acitretin/Etretinate Embryopathy
Preauricular skin tag, Cupped ear, Micrognathia, Median cleft palate, Aplasia/hypoplasia involvin... ORPHA:40366
Congenital Myopathy 19
Low-set ears, Hearing impairment, Micrognathia, High palate, Triangular face, Posteriorly rotated... OMIM:618578
Ritscher-Schinzel Syndrome 4
Curly hair OMIM:619435
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... OMIM:613751
Acrogeria
Irregular hyperpigmentation, Fine hair ORPHA:2500
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Hearing impairment, Microdontia, Thin upper lip vermilion, Everted low... OMIM:619736
Weill-Marchesani Syndrome 2
Tooth malposition, Hypoplasia of the maxilla, Narrow palate, Umbilical hernia, Short finger, Abno... OMIM:608328
Amelo-Onycho-Hypohidrotic Syndrome
Fine hair, Abnormal fingernail morphology, Hypoplastic toenails, Onycholysis, Hypohidrosis ORPHA:1028
Lipoid Proteinosis Of Urbach And Wiethe
Patchy alopecia OMIM:247100
Olmsted Syndrome 2
Alopecia universalis, Sparse hair, Woolly hair OMIM:619208
Developmental And Epileptic Encephalopathy 66
Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Widely spaced te... OMIM:618067
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Aplasia/hypoplasia involving bones of the extremities, Flat face, Carious teeth, Hearing impairme... ORPHA:93346
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Short distal phalanx of finger, Joint dislocation, Short toe, Abnormal mandi... ORPHA:3201
Cornelia De Lange Syndrome 5
Small hand, Downturned corners of mouth, Hearing impairment, Long philtrum, Retrognathia, Widely ... OMIM:300882
Brachytelephalangic Chondrodysplasia Punctata
Short distal phalanx of finger, Hypoplasia of the maxilla, Hypoplastic cervical vertebrae, Hypopl... ORPHA:79345
Bathing Suit Ichthyosis
Alopecia, Sparse hair, Nail dystrophy, Hypohidrosis ORPHA:100976
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal helix morphology, Hearing impairment, Open mouth, High palate, Long face, Plagiocephaly,... ORPHA:453499
Ablepharon-Macrostomia Syndrome
Low-set ears, Microtia, first degree, Microtia, third degree, Hearing impairment, Hypoplasia of t... OMIM:200110
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
Low-set ears, Micrognathia, Wide mouth, Limited elbow extension, Orofacial cleft, Abnormal facial... ORPHA:502434
Blepharo-Cheilo-Odontic Syndrome
Conical tooth, Carious teeth, Conductive hearing impairment, Bilateral cleft palate, Anal atresia ORPHA:1997
Maternal Phenylketonuria
Hypoplastic helices, Hypoplastic left heart, Tetralogy of Fallot, Abnormal heart morphology, Micr... ORPHA:2209
Zttk Syndrome
Low-set ears, Bifid uvula, Hypoplasia of the maxilla, Abnormality of the dentition, Midface retru... OMIM:617140
Multiple Pterygium Syndrome, Escobar Variant
Low-set ears, Intercrural pterygium, Exostosis of the external auditory canal, Micrognathia, Narr... OMIM:265000
Acrofacial Dysostosis, Palagonia Type
Low-set ears, High, narrow palate, Small hand, Midface retrusion, Unilateral cleft lip, Micrognat... ORPHA:1787
17Q23.1Q23.2 Microdeletion Syndrome
Shallow acetabular fossae, Hearing impairment, Patellar hypoplasia, Widely spaced teeth, Narrow m... ORPHA:261279
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Umbilical... OMIM:600001
Orofacial Cleft 13
Retrognathia, Cleft soft palate, Micrognathia, Malar flattening, Oligodontia OMIM:613857
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Abnormality of canine, Aplasia of the distal phalanx of the 5th finger, Microglossia, Aplasia of ... ORPHA:364577
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Low-set ears, Dental malocclusion, Diastema, Micrognathia, Malar flattening, Attached earlobe, Sh... ORPHA:436245
Chops Syndrome
Coarse hair, Long eyelashes, Thick eyebrow, Thick hair, Curly hair, Synophrys OMIM:616368
Baraitser-Winter Syndrome 1
Low-set ears, Midface retrusion, Retrognathia, Long philtrum, Cleft upper lip, Trigonocephaly, Se... OMIM:243310
Acrofacial Dysostosis, Catania Type
Webbed neck, Carious teeth, Preauricular pit, Micrognathia, Malar flattening, Short palm, Spina b... OMIM:101805
Hematuria, Benign Familial, 2
Sensorineural hearing impairment OMIM:620320
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta, Otosclerosis, Wormian bones, Hearing impairment OMIM:166220
Neurooculocardiogenitourinary Syndrome
Low-set ears, Tricuspid regurgitation, Redundant neck skin, Sensorineural hearing impairment, Ven... OMIM:618652
Osteopetrosis With Renal Tubular Acidosis
Tooth malposition, Abnormality of the dentition, Optic atrophy, Conductive hearing impairment, Re... ORPHA:2785
2P15P16.1 Microdeletion Syndrome
Low-set ears, Optic atrophy, Hearing impairment, Long philtrum, Retrognathia, Camptodactyly of fi... ORPHA:261349
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Alopecia of scalp, Nail dystrophy, Hypomelanotic macule, Freckling, Hypermelanotic macule OMIM:618373
Geroderma Osteodysplasticum
Abnormality of the dentition, Hypoplasia of the maxilla, Periodontitis, Malar flattening, Wormian... OMIM:231070
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells OMIM:618982
Acromicric Dysplasia
Long philtrum, Thick lower lip vermilion, Narrow mouth, Deep philtrum, Round face, Short foot, Sh... OMIM:102370
Systemic Lupus Erythematosus 17
Alopecia OMIM:301080
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Low posterior hairline, Highly arched eyebrow, Thick eyebrow, Curly hair OMIM:617360
16Q24.3 Microdeletion Syndrome
Preauricular skin tag, Hearing impairment, Long philtrum, Frontal bossing, Micrognathia, Perivent... ORPHA:261250
Chromosome 5Q12 Deletion Syndrome
Macroglossia, Flat face, Long philtrum, Frontal bossing, Micrognathia, Increased nuchal transluce... OMIM:615668
Ichthyosis, Congenital, Autosomal Recessive 2
Alopecia, Small nail, Abnormal hair morphology, Hypohidrosis, Thin nail, Anhidrosis OMIM:242100
Bent Bone Dysplasia Syndrome 1
Low-set ears, Coronal craniosynostosis, Natal tooth, Midface retrusion, Micrognathia, Gingival ov... OMIM:614592
Mandibuloacral Dysplasia With Type B Lipodystrophy
Dental crowding, Delayed cranial suture closure, Micrognathia, Narrow mouth, Abnormality of the n... OMIM:608612
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Alopecia, Melanocytic nevus OMIM:612079
Desbuquois Dysplasia 1
Microretrognathia, Midface retrusion, Short 1st metacarpal, Long philtrum, Joint dislocation, Nar... OMIM:251450
Tetraamelia Syndrome 2
Low-set ears, Microretrognathia, Ankyloglossia, Micrognathia, Amelia, Bilateral cleft lip, Glosso... OMIM:618021
Tetrasomy 18P
Long philtrum, Low-set, posteriorly rotated ears, Narrow mouth, Abnormality of neuronal migration... ORPHA:3307
Progeroid Syndrome, Petty Type
Abnormal hair morphology, Thick eyebrow, Long eyelashes in irregular rows, Generalized hirsutism,... ORPHA:2963
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Coarse hair, Nail dystrophy, Brittle hair ORPHA:75389
Monosomy 18P
Webbed neck, Tooth malposition, Carious teeth, Downturned corners of mouth, Micrognathia, Abnorma... ORPHA:1598
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Woolly hair OMIM:607450
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Sparse hair, Nail dystrophy, Abnormality of skin pigmentation OMIM:616353
Melkersson-Rosenthal Syndrome
Furrowed tongue, Facial palsy OMIM:155900
Lissencephaly, X-Linked, 2
Low-set ears, Long philtrum, Micrognathia, Thin upper lip vermilion, Long upper lip, Pachygyria, ... OMIM:300215
Deafness, Autosomal Dominant 36
Tinnitus, Sensorineural hearing impairment OMIM:606705
Deafness, Autosomal Dominant 43
Tinnitus, Sensorineural hearing impairment OMIM:608394
Deafness, Autosomal Dominant 33
Tinnitus, Sensorineural hearing impairment OMIM:614211
Deafness, Autosomal Dominant 64
Tinnitus, Sensorineural hearing impairment OMIM:614152
Deafness, Autosomal Dominant 67
Tinnitus, Sensorineural hearing impairment OMIM:616340
Deafness, Autosomal Dominant 72
Tinnitus, Sensorineural hearing impairment OMIM:617606
Deafness, Autosomal Dominant 82
Tinnitus, Sensorineural hearing impairment OMIM:619804
Deafness, Y-Linked 1
Tinnitus, Sensorineural hearing impairment OMIM:400043
Hadziselimovic Syndrome
Low-set ears, Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect, Atrial sep... OMIM:612946
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Microretrognathia, Branchial cyst, Abnormal heart morphology, Atriov... ORPHA:508488
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Aplasia/Hypoplasia of the earlobes, Patellar dislocation, Plagiocephaly, Elbow dislocation, Abnor... ORPHA:2916
Rhizomelic Chondrodysplasia Punctata
Alopecia, Sparse body hair ORPHA:177
Orofaciodigital Syndrome Iv
Low-set ears, Lobulated tongue, Short tibia, Short finger, Hamartoma of tongue, Micrognathia, Hig... OMIM:258860
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Alopecia, Sparse body hair, Absent eyelashes, Absent eyebrow, Sparse scalp hair ORPHA:69735
Kaufman Oculocerebrofacial Syndrome
Low-set ears, Preauricular skin tag, Congenital hip dislocation, Carious teeth, Narrow face, Dias... OMIM:244450
Acromicric Dysplasia
Small hand, Long philtrum, Thick lower lip vermilion, Decreased nerve conduction velocity, Narrow... ORPHA:969
Chromosome 14Q11-Q22 Deletion Syndrome
Low-set ears, Optic atrophy, Plagiocephaly, Hip subluxation, Long philtrum, Micrognathia, Narrow ... OMIM:613457
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Dental crowding, Delayed eruption of teeth, Long philtrum, Frontal bossing, High palate, Wide mouth OMIM:618825
Microcephalic Primordial Dwarfism, Montreal Type
Carious teeth, Low-set, posteriorly rotated ears, Open bite, Micrognathia, Congenital pyloric atr... ORPHA:2617
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia OMIM:601457
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Small hand, Thick lower lip vermilion, Polymicrogyria, Wide mouth, Coarse facial features, Macrog... OMIM:300354
Neuropathy, Congenital Hypomyelinating, 3
Low-set ears, Decreased motor nerve conduction velocity, Hearing impairment, Retrognathia, Microg... OMIM:618186
Sheldon-Hall Syndrome
Webbed neck, Narrow face, Aplasia/Hypoplasia of the radius, Micrognathia, Tarsal synostosis, Prot... ORPHA:1147
Menkes Disease
Hypopigmentation of the skin, Alopecia, Sparse hair, Brittle hair OMIM:309400
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Ventricular septal defect, Overriding aorta, Atrial septal defect, Patent ductus ... OMIM:601927
Myhre Syndrome
Low-set ears, Hypoplasia of the maxilla, Cleft lip, Midface retrusion, Hearing impairment, Short ... OMIM:139210
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia OMIM:618108
Esophageal Ring, Lower
Hiatus hernia, Dysphagia OMIM:133240
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Absent internal auditory canal, Hypoplasia of the cochlea, Profound sensorineural hearing impairment OMIM:620469
Vulto-Van Silfhout-De Vries Syndrome
Horizontal eyebrow, Widow's peak, Fine hair OMIM:615828
Hennekam Syndrome
Low-set ears, Abnormal oral mucosa morphology, Flat face, Conductive hearing impairment, Delayed ... ORPHA:2136
Weyers Ulnar Ray/Oligodactyly Syndrome
Mesomelia, Finger aplasia, Narrow face, Absent thumb, Cleft upper lip, Micrognathia, Proximal rad... OMIM:602418
Oculocerebrofacial Syndrome, Kaufman Type
High, narrow palate, Preauricular skin tag, Optic atrophy, Narrow face, Retrognathia, Abnormal li... ORPHA:2707
Ring Chromosome 10 Syndrome
Low-set ears, Long philtrum, Large earlobe, Micrognathia, Abnormal antihelix morphology, Aganglio... ORPHA:1438
Tetraploidy
Preauricular skin tag, Hypoplasia of the ear cartilage, Micrognathia, Short philtrum, Biparietal ... ORPHA:3305
Distal Arthrogryposis Type 1
Narrow mouth, Camptodactyly of finger ORPHA:1146
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Interrupted aortic arch, Hypertrophic cardiomyopathy, Patent foramen ovale, Sensorineural hearing... ORPHA:17
Ehlers-Danlos Syndrome, Classic Type, 1
Joint dislocation, Umbilical hernia, Bowel diverticulosis, Recurrent sinusitis, Osteoarthritis, H... OMIM:130000
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... OMIM:616924
German Syndrome
Midface retrusion, Camptodactyly of finger, Micrognathia, Hearing abnormality, Open mouth, Short ... ORPHA:2077
Non-Distal Duplication 13Q
Aplasia/Hypoplasia of the earlobes, Abnormality of the dentition, Long philtrum, Trigonocephaly, ... ORPHA:1702
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Cupped ear, Ventricular septal defect, Hypertension, Aganglionic megacolon, Atrial septal defect,... OMIM:613870
Immunodeficiency 67
Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell... OMIM:607676
Nicolaides-Baraitser Syndrome
Highly arched eyebrow, Alopecia, Long eyelashes, Curly eyelashes, Abnormal hair pattern, Sparse hair ORPHA:3051
Hernia, Hiatus
Hiatus hernia OMIM:142400
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Coronary artery atheroscle... ORPHA:1457
Microphthalmia, Syndromic 12
Retrognathia, Intestinal malrotation, Micrognathia, Neonatal death, Cleft palate OMIM:615524
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Lissencephaly, Bifid uvula, Retrognathia, Skull asymmetry, Umbilical hernia, Protruding tongue, S... OMIM:612938
Rodrigues Blindness
Sparse hair, Fine hair OMIM:268320
Fetal Trimethadione Syndrome
Low-set ears, Abnormal helix morphology, Tetralogy of Fallot, Micrognathia, Ventricular septal de... ORPHA:1913
Autoimmune Polyendocrinopathy Type 2
Alopecia, Hypopigmented skin patches ORPHA:3143
Orofacial Cleft 15
Low-set ears, Palate fistula, Midface retrusion, Bilateral cleft palate, Protruding ear, Bilatera... OMIM:616788
Acrorenal Syndrome
Aplasia/Hypoplasia of the radius, Micrognathia, Cleft palate ORPHA:971
Global Developmental Delay With Or Without Impaired Intellectual Development
Low-set ears, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618330
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Retrognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Ma... ORPHA:2521
Branchiooculofacial Syndrome
Low-set ears, Hearing impairment, Micrognathia, Sensorineural hearing impairment, Low posterior h... OMIM:113620
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Recurrent otitis media, Mitral a... OMIM:620570
Craniofrontonasal Dysplasia
Ridged fingernail, Low posterior hairline, Abnormality of hair texture, Woolly hair, Widow's peak ORPHA:1520
Li-Campeau Syndrome
Low-set ears, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Patent ductu... OMIM:619189
Hunter-Mcalpine Craniosynostosis Syndrome
Craniosynostosis, Narrow mouth, Downturned corners of mouth OMIM:601379
Weaver Syndrome
Fine hair, Abnormal fingernail morphology, Hypoplastic toenails, Thin nail, Deep-set nails ORPHA:3447
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Spinocerebellar atrophy, Optic atrophy, Hearing impairment, Cochlear degeneration ORPHA:95433
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Hearing impairment, Pulmonic stenosis, Ventricular septal defect ORPHA:251076
Bartsocas-Papas Syndrome 1
Low-set ears, Hypoplastic scapulae, Micrognathia, Short neck, Absent radius, Anal atresia, Short ... OMIM:263650
Temple Syndrome
Bifid uvula, Small hand, Frontal bossing, Recurrent otitis media, Micrognathia, Short philtrum, H... OMIM:616222
Giant Axonal Neuropathy
Woolly hair, Pili canaliculi ORPHA:643
Greenberg Dysplasia
Low-set ears, Large placenta, Micrognathia, Neonatal death, Costal cartilage calcification, Short... OMIM:215140
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Low-set ears, Rhizomelia, Downturned corners of mouth, Micrognathia, Short neck, Short philtrum, ... ORPHA:93267
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia OMIM:616576
Monosomy 18Q
Aortic valve stenosis, Bilateral conductive hearing impairment, Secundum atrial septal defect, Ab... ORPHA:1600
Achalasia-Microcephaly Syndrome
Micrognathia, Mandibular prognathia, Macrotia ORPHA:929
Spastic Paraplegia 50, Autosomal Recessive
Wide mouth, Coarse facial features, High palate, Optic disc pallor, Short philtrum, Mandibular pr... OMIM:612936
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Leukonychia, Woolly hair, Nail dystrophy, Fragile nails OMIM:615821
Galloway-Mowat Syndrome 3
Low-set ears, Midface retrusion, Micrognathia, Narrow mouth, Hiatus hernia, Pachygyria, High pala... OMIM:617729
Ramos-Arroyo Syndrome
Carious teeth, Xerostomia, Smooth tongue, Long philtrum, Broad face, Narrow mouth, Aganglionic me... ORPHA:1051
Poirier-Bienvenu Neurodevelopmental Syndrome
Downturned corners of mouth, Open mouth, Protruding tongue, Smooth philtrum, Mandibular prognathia OMIM:618732
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Flat face, Hearing impairment, Intestinal lymphangiectasia, Narrow mouth, Irregular dentition, Ab... OMIM:616006
Autism, Susceptibility To, X-Linked 6
Short philtrum, Narrow mouth OMIM:300872
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
High, narrow palate, Abnormality of the outer ear, Dental crowding, Downturned corners of mouth, ... ORPHA:96182
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Weill-Marchesani Syndrome 1
Tooth malposition, Hypoplasia of the maxilla, Abnormal dental morphology, Brachycephaly, Narrow p... OMIM:277600
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Webbed neck, Micrognathia, Cleft palate, Hypoplastic distal segments of scapulae, Pierre-Robin se... OMIM:602196
Schimke Immuno-Osseous Dysplasia
Shallow acetabular fossae, Microdontia, Abnormal intestine morphology, Abnormal primary molar mor... ORPHA:1830
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Small hand, Downturned corners of mouth, Low-set, posteriorly rotated ears, Micrognathia, Short foot ORPHA:254525
Luo-Schoch-Yamamoto Syndrome
Small hand, Umbilical hernia, Recurrent otitis media, Wide mouth, Narrow mouth, Thick vermilion b... OMIM:619460
Wolf-Hirschhorn Syndrome
Micrognathia, Sensorineural hearing impairment, Low posterior hairline, Radioulnar synostosis, Sh... OMIM:194190
Adult Syndrome
Alopecia, Toenail dysplasia, Absent nipple, Fine hair, Breast hypoplasia, Fingernail dysplasia, M... ORPHA:978
Oculocerebrocutaneous Syndrome
Alopecia OMIM:164180
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Low-set ears, Flat face, Downturned corners of mouth, Long philtrum, Narrow mouth, Cervical C2/C3... OMIM:617333
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Peripheral axonal neuropathy, Micrognathia, Narrow mouth, Neonatal death OMIM:618810
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Low-set ears, Carious teeth, Bilateral conductive hearing impairment, Atresia of the external aud... OMIM:620186
Eec Syndrome
Abnormality of the middle ear, Carious teeth, Xerostomia, Tooth agenesis, Abnormal dental enamel ... ORPHA:1896
Meier-Gorlin Syndrome 2
Micrognathia, Narrow mouth, Patellar aplasia, Smooth philtrum, Dolichocephaly, Abnormal pinna mor... OMIM:613800
Immunodeficiency 17
Abnormal B cell morphology, Decreased proportion of CD8-positive T cells, Autoimmune hemolytic an... OMIM:615607
Fryns Syndrome
Abnormal aortic arch morphology, Multicystic kidney dysplasia, Low-set, posteriorly rotated ears,... ORPHA:2059
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Short tibia, Encephalocele, Anal atresia, Flat acetabular roof, Macrotia, Cleft lip,... OMIM:616300
Satoyoshi Syndrome
Alopecia universalis, Alopecia OMIM:600705
Intellectual Developmental Disorder, Autosomal Dominant 65
Low-set ears, Downturned corners of mouth, Long philtrum, Thick upper lip vermilion, Micrognathia... OMIM:619320
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
High, narrow palate, Underdeveloped superior crus of antihelix, Delayed eruption of teeth, Hearin... ORPHA:369950
Orofaciodigital Syndrome Iii
Low-set ears, Bifid uvula, Microdontia, Short sternum, Bifid tongue, Supernumerary tooth, Tongue ... OMIM:258850
Mosaic Variegated Aneuploidy Syndrome 2
Low-set ears, Rhizomelia, Hearing impairment, Micrognathia, Narrow mouth, Dolichocephaly, Long fa... OMIM:614114
Olmsted Syndrome 1
Alopecia universalis, Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Hyperhidrosis, Sp... OMIM:614594
Acrootoocular Syndrome
Low-set ears, High, narrow palate, Conductive hearing impairment, Atresia of the external auditor... ORPHA:2980
Atelosteogenesis, Type Ii
Midface retrusion, Micromelia, Micrognathia, Malar flattening, Short neck, Limb undergrowth, Stil... OMIM:256050
Sucrosuria, Hiatus Hernia, And Impaired Intellectual Development
Hiatus hernia OMIM:272000
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, T lymphocytopenia, Absence of lymph node germinal center, B lymphocytopenia ORPHA:277
Hajdu-Cheney Syndrome
Low-set ears, Conductive hearing impairment, Dental malocclusion, Long philtrum, Umbilical hernia... OMIM:102500
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... OMIM:150550
Pseudodiastrophic Dysplasia
Webbed neck, Rhizomelia, Hypoplasia of the odontoid process, Midface retrusion, Elbow dislocation... OMIM:264180
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Sp... OMIM:314050
Trichothiodystrophy 6, Nonphotosensitive
Tiger tail banding, Slow-growing hair, Brittle hair OMIM:616943
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Low-set ears, Cupped ear, Hearing impairment, Retrognathia, Optic disc coloboma, Sensorineural he... ORPHA:52055
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Microretrognathia, Narrow mouth, Peripheral axonal neuropathy, Axonal loss, High palate OMIM:616866
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Low-set ears, Micrognathia, Narrow mouth, Sensorineural hearing impairment, Dislocated radial hea... OMIM:619512
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Microphthalmia, Syndromic 8
Widely-spaced maxillary central incisors, Cleft upper lip, Orofacial cleft, Mandibular prognathia... OMIM:601349
Recon Progeroid Syndrome
Dental crowding, Prominence of the premaxilla, Attached earlobe, Smooth philtrum, Round face, Thi... OMIM:620370
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... OMIM:600501
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Flat face, Narrow mouth, Malar flattening, Low posterior hairline, Broad philtrum, Coarse facial ... ORPHA:2463
Treacher Collins Syndrome 1
Preauricular skin tag, Conductive hearing impairment, Atresia of the external auditory canal, Cle... OMIM:154500
White-Sutton Syndrome
Abnormality of the outer ear, Optic atrophy, Midface retrusion, Downturned corners of mouth, Open... ORPHA:468678
Kleefstra Syndrome 1
Flat face, Natal tooth, Hearing impairment, Midface retrusion, Persistence of primary teeth, Prot... OMIM:610253
Trichothiodystrophy 5, Nonphotosensitive
Sparse eyebrow, Reduced hair sulfur content, Tiger tail banding, Slow-growing hair, Brittle hair,... OMIM:300953
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Microretrognathia, Dental crowding, Hearing impairment, Long philtrum, Absent antihelix, Short fi... OMIM:300998
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Low-set ears, High, narrow palate, Retrognathia, Long philtrum, Polymicrogyria, Micrognathia, Ile... OMIM:620156
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Deafness, Autosomal Dominant 58
Tinnitus, Sensorineural hearing impairment OMIM:615654
Terminal Osseous Dysplasia
Low-set ears, Short toe, Camptodactyly of finger, Mesomelic leg shortening, Malar flattening, Thi... OMIM:300244
15Q24 Microdeletion Syndrome
Abnormality of the outer ear, Abnormality of the dentition, Small hand, Hearing impairment, Long ... ORPHA:94065
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Periodontitis, Open bite, Micrognathia, Open mouth, Genu valgum, Everted lower lip... ORPHA:534
Gillespie Syndrome
Truncus arteriosus OMIM:206700
Olmsted Syndrome, X-Linked
Alopecia totalis, Subungual hyperkeratosis OMIM:300918
Osteogenesis Imperfecta, Type I
Dentinogenesis imperfecta, Otosclerosis, Wormian bones, Hearing impairment OMIM:166200
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Flat face, Intestinal malrotation, Micrognathia, Bilateral cleft palate, Short neck, Bifid tongue... ORPHA:2001
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Conductive hearing impairment, Cleft upper lip, Micrognathia, Facial asymmetry, Cleft palate OMIM:601076
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Interrupted aortic arch, Biventricular hypert... OMIM:618280
Deafness, Autosomal Recessive 103
Abnormal vestibular function, Vestibular areflexia, Sensorineural hearing impairment OMIM:616042
Localized Junctional Epidermolysis Bullosa
Sparse pubic hair, Dystrophic toenail, Atrophic, patchy alopecia, Nail dystrophy, Sparse axillary... ORPHA:251393
20Q13.33 Microdeletion Syndrome
Hematochezia, Abnormal cardiac ventricle morphology, Dilation of Virchow-Robin spaces, Prominent ... ORPHA:261311
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo... ORPHA:895
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Low-set ears, Flat face, Hearing impairment, Long philtrum, Narrow mouth, Malar flattening, Thin ... OMIM:601353
Giant Cell Arteritis
Vasculitis, Epistaxis, Optic atrophy, Conductive hearing impairment, Hearing impairment, Double o... ORPHA:397
Craniofacial Microsomia 1
Occipital encephalocele, Atresia of the external auditory canal, Unilateral external ear deformit... OMIM:164210
Chromosome 16Q22 Deletion Syndrome
Low-set ears, Frontal bossing, Micrognathia, Sensorineural hearing impairment, Wormian bones, Sho... OMIM:614541
Lateral Meningocele Syndrome
Low-set ears, Conductive hearing impairment, Dental crowding, Long philtrum, Umbilical hernia, Mi... OMIM:130720
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Low-set ears, Abnormality of the dentition, Dental malocclusion, Umbilical hernia, Thick lower li... ORPHA:85321
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Protruding ear, Patellar hypoplasia, Micrognathia, Macrotia OMIM:251240
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Low-set ears, Midface retrusion, Thick lower lip vermilion, Thick upper lip vermilion, Frontal bo... OMIM:608624
Monosomy 9P
Low-set ears, Webbed neck, Abnormality of the dentition, Atresia of the external auditory canal, ... ORPHA:261112
Acrofrontofacionasal Dysostosis 1
Optic atrophy, Mandibular prognathia, Short distal phalanx of finger, Cleft upper lip, Malar flat... OMIM:201180
Autosomal Recessive Omodysplasia
Low-set ears, Rhizomelia, Micromelia, Long philtrum, Elbow dislocation, Pterygium, Frontal bossin... ORPHA:93329
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... ORPHA:1455
Cutis Laxa, Autosomal Recessive, Type Iic
Low-set ears, Hypoplasia of the maxilla, Dental crowding, Long philtrum, Narrow mouth, Median cle... OMIM:617402
Monosomy 9Q22.3
Low-set ears, Delayed eruption of teeth, Long philtrum, Umbilical hernia, Trigonocephaly, Narrow ... ORPHA:77301
Glanzmann Thrombasthenia 1
Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-IIIa, Subdural hemorr... OMIM:273800
Combined Oxidative Phosphorylation Deficiency 31
Midface retrusion, Micrognathia, Wide mouth OMIM:617228
Deafness, Autosomal Dominant 16
Tinnitus, Adult onset sensorineural hearing impairment OMIM:603964
Lissencephaly 7 With Cerebellar Hypoplasia
Downturned corners of mouth, Micrognathia, Neonatal death, Short neck, Full cheeks, Agyria, Lisse... OMIM:616342
Johnson Neuroectodermal Syndrome
Carious teeth, Conductive hearing impairment, Atresia of the external auditory canal, Protruding ... ORPHA:2316
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Tongue fasciculations, Narrow mouth OMIM:620007
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Umbilical hernia, Low-set, posteriorly rotated ears, Intestinal mal... ORPHA:2166
Trichohepatoenteric Syndrome 1
Sparse hair, Fine hair, Trichorrhexis nodosa, Curly hair, Generalized hypopigmentation, Brittle h... OMIM:222470
Iniencephaly
Low-set ears, Rhizomelia, Spinal dysraphism, Absent vertebra, Myelomeningocele, Abnormal occipita... ORPHA:63259
Global Developmental Delay With Speech And Behavioral Abnormalities
Hearing impairment, Recurrent otitis media, Micrognathia, Thin upper lip vermilion, Anal atresia,... OMIM:619243
Bleeding Disorder, Platelet-Type, 21
Alopecia OMIM:617443
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Aplasia/Hypoplasia of the earlobes, Retrognathia, Short toe, Low-set, posteriorly rotated ears, M... ORPHA:98791
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Hearing impairment, Partial atrioventricular canal defect, Ventricular se... OMIM:615996
Williams-Beuren Region Duplication Syndrome
Diastema, Micrognathia, Brachycephaly, Facial asymmetry, High palate, Overfolded helix, Short phi... OMIM:609757
Corneal Dystrophy And Perceptive Deafness
Sensorineural hearing impairment OMIM:217400
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Aplastic clavicle, Coronal craniosynostosis, Plagiocephaly, Hearing impairment, Parietal foramina... ORPHA:85199
Noonan Syndrome 13
Low-set ears, Webbed neck, Plagiocephaly, Long philtrum, Widely spaced teeth, Recurrent otitis me... OMIM:619087
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Low-set ears, Retrognathia, Micrognathia, Ventricular septal defect, Atrial septal defect, Hypopl... OMIM:618142
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Low-set ears, Anal stenosis, Downturned corners of mouth, Micrognathia, Narrow mouth, Thin upper ... OMIM:620029
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Omodysplasia 2
Short 1st metacarpal, Long philtrum, Limited elbow flexion, Recurrent otitis media, Rhizomelic ar... OMIM:164745
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Narrow mouth, Bilateral sensorineural hearing impairment, Optic disc pallor, Duodenal atresia, An... ORPHA:468631
Aortic Arch Anomaly With Peculiar Facies And Impaired Intellectual Development
Right aortic arch with mirror image branching OMIM:107500
X-Linked Intellectual Disability, Najm Type
Optic atrophy, Long philtrum, Micrognathia, Sensorineural hearing impairment, Macrotia, Optic ner... ORPHA:163937
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Mandibular prognathia, Midface retrusion, Hearing impairment, Umbilical hernia, Wide mouth, Promi... OMIM:620475
Down Syndrome
Conductive hearing impairment, Tetralogy of Fallot, Atrioventricular canal defect, Complete atrio... OMIM:190685
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Tinnitus, High-frequency hearing impairment, Bilateral sensorineural hearing impairment OMIM:605594
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Mitral regurgitation, Ventricular septal defect, Hydrocephalus, Atrial septal defect, Vascular ring OMIM:603387
Osteoglosphonic Dysplasia
Rhizomelia, Tooth agenesis, Micrognathia, Protruding ear, Multiple unerupted teeth, Craniosynostosis ORPHA:2645
Parenti-Mignot Neurodevelopmental Syndrome
Low-set ears, Cupped ear, Frontal bossing, Micrognathia, Craniosynostosis, Short philtrum, Poster... OMIM:619873
Arthrogryposis, Distal, Type 2B2
Hip dislocation, Short toe, Narrow mouth, Triangular face, Ulnar deviation of the wrist OMIM:618435
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of fingers, Conductive hearing impairment,... ORPHA:3082
Congenital Disorder Of Glycosylation, Type Iie
Low-set ears, Retrognathia, Micrognathia, Narrow mouth, Protruding tongue, Sensorineural hearing ... OMIM:608779
Catel-Manzke Syndrome
Low-set ears, Bifid uvula, Short femur, Short toe, Cleft upper lip, Umbilical hernia, Joint dislo... OMIM:616145
Skin Creases, Congenital Symmetric Circumferential, 2
Low-set ears, Broad neck, Flat face, Carious teeth, Micrognathia, Narrow mouth, Microdontia, Thin... OMIM:616734
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Digeorge Syndrome
Low-set ears, Interrupted aortic arch, Right aortic arch with mirror image branching, Umbilical h... OMIM:188400
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Cystic hygroma, Low-set ears, Optic atrophy, Hypoplastic left heart, Heari... OMIM:618164
Epidermodysplasia Verruciformis, Susceptibility To, 4
Increased proportion of exhausted T cells OMIM:618307
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Low-set ears, Muscular ventricular septal defect, Micrognathia, Malar flatt... OMIM:612474
Li-Ghorbani-Weisz-Hubshman Syndrome
Low-set ears, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618974
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Low-set ears, Aortic root aneurysm, Mitral regurgitation, Ventricular septal defect, Low posterio... OMIM:617506
Nemaline Myopathy 2
Low-set ears, Long philtrum, Narrow mouth, High palate, Cleft palate OMIM:256030
Hernández-Aguirre Negrete Syndrome
Low-set, posteriorly rotated ears, Deep philtrum, Wide mouth, Round face ORPHA:2139
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Abnormal facial shape, Hypoplasia of the maxilla, Mandibular prognathia, Long face ORPHA:3044
Joubert Syndrome 18
Occipital encephalocele, Retrognathia, Trident pelvis, Cleft palate, Lobulated tongue OMIM:614815
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Decreased nerve conduction velocity, 11 pairs of ribs, Micrognathia, Glossoptosis, Cleft palate OMIM:618356
Craniometadiaphyseal Dysplasia
Low-set ears, Carious teeth, Natal tooth, Absent paranasal sinuses, Dental crowding, Genu valgum,... OMIM:269300
Clark-Baraitser Syndrome
Low-set ears, Downturned corners of mouth, Long philtrum, Large earlobe, Exaggerated cupid's bow,... OMIM:617752
Otospondylomegaepiphyseal Dysplasia
Bifid uvula, Flat face, Midface retrusion, Abnormal joint morphology, Enlarged joints, Micrognath... ORPHA:1427
Distal Deletion 15Q
Low-set ears, Hypoplastic left heart, Abnormal aortic arch morphology, Multicystic kidney dysplas... ORPHA:1596
Cardiofaciocutaneous Syndrome 1
Multiple lentigines, Absent eyelashes, Low posterior hairline, Hyperpigmentation of the skin, Abs... OMIM:115150
Distal Deletion 10Q
Low-set ears, Abnormality of the outer ear, Congenital sensorineural hearing impairment, Abnormal... ORPHA:96148
Klippel-Feil Syndrome 2, Autosomal Recessive
Conductive hearing impairment, Sensorineural hearing impairment, Limited neck range of motion, Lo... OMIM:214300
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Rhizomelia, Micrognathia, Abnormality of the tongue, Short neck, ... ORPHA:3098
Williams Syndrome
Synostosis of joints, Carious teeth, Open bite, Micrognathia, Genu valgum, Abnormality of the nec... ORPHA:904
Chand Syndrome
Nail dysplasia, Hypohidrosis, Curly hair ORPHA:1401
Musculocontractural Ehlers-Danlos Syndrome
Malrotation of small bowel, Cleft lip, Microretrognathia, Hearing impairment, Long philtrum, Low-... ORPHA:2953
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Epistaxis, Giant platelets, Leukocyte inclusion bodies, Prolonged bleeding time, Impaired ADP-ind... OMIM:155100
X-Linked Intellectual Disability, Snyder Type
Low-set ears, Webbed neck, Narrow face, Cupped ear, Dental crowding, Thick lower lip vermilion, A... ORPHA:3063
Dyskeratosis Congenita
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Periodontitis, Hearing im... ORPHA:1775
Bamforth-Lazarus Syndrome
Retrognathia, Cleft palate ORPHA:1226
Intellectual Developmental Disorder, Autosomal Dominant 64
Low-set ears, Plagiocephaly, Cupped ear, Periventricular nodular heterotopia, Micrognathia, Thin ... OMIM:619188
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Alopecia ORPHA:88630
Holoprosencephaly 13, X-Linked
Low-set ears, Hypoplastic left heart, Optic nerve hypoplasia, Alobar holoprosencephaly, Hearing i... OMIM:301043
Centrifugal Lipodystrophy
Alopecia ORPHA:90156
Multiple Pterygium Syndrome, X-Linked
Low-set ears, Joint dislocation, Cleft upper lip, Short finger, Micrognathia, Multiple pterygia, ... OMIM:312150
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Low-set ears, Preauricular skin tag, Retrognathia, Umbilical hernia, Recurrent otitis media, Medi... OMIM:619758
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Hypoplastic tricuspid valve, Congenital defect of the pericardium, Umbil... ORPHA:2255
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Odontoonychodermal Dysplasia
Sparse eyebrow, Dry hair, Short nail, Dystrophic toenail, Fine hair, Sparse body hair, Ridged nai... OMIM:257980
X-Linked Intellectual Disability, Nascimento Type
Broad neck, Peripheral pulmonary artery stenosis, Hearing impairment, Tetralogy of Fallot, Mitral... ORPHA:163956
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Lower cranial nerve dysfunction, Abnormal peripheral action potential amplitude, Abnormal cranial... ORPHA:90117
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... ORPHA:261183
Verloove Vanhorick-Brubakk Syndrome
Low-set ears, Atresia of the external auditory canal, Micrognathia, Limb undergrowth, Tarsal syno... ORPHA:3429
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph... OMIM:607594
Oligomeganephronia
Secundum atrial septal defect, Branchial cyst, Optic disc coloboma, Hearing impairment, Micrognat... ORPHA:2260
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Atrial septal defect, Torticollis, Patent ductus arteriosus, Pulmonic ... OMIM:249670
Richieri-Costa/Guion-Almeida Syndrome
Narrow face, Hearing impairment, Cleft upper lip, Malar flattening, Brachycephaly, Spina bifida o... OMIM:268850
Tooth Agenesis, Selective, 3
Oligodontia, Agenesis of permanent molar, Oligodontia of primary teeth, Microdontia OMIM:604625
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Sparse eyebrow, Dry hair, Sparse eyelashes, Nail dysplasia, Pili torti, Hyperhidrosis, Brittle ha... OMIM:225060
Neurofaciodigitorenal Syndrome
Low-set ears, Abnormal oral mucosa morphology, Hypoplasia of the premaxilla, Plagiocephaly, Atres... ORPHA:2673
16P12.1P12.3 Triplication Syndrome
Low-set ears, High, narrow palate, Short 5th finger, Retrognathia, Long philtrum, Large earlobe, ... ORPHA:485405
Deafness And Myopia
Sensorineural hearing impairment OMIM:221200
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia OMIM:615297
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Low-set ears, Rhizomelia, Frontal bossing, Micrognathia, Short philtrum, Short foot, Wide mouth, ... ORPHA:163966
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyebrow, Nail dystrophy, Sparse eyelashes, Woolly hair OMIM:605676
Warsaw Breakage Syndrome
Cupped ear, Hearing impairment, Optic disc coloboma, Tetralogy of Fallot, Ventricular septal defe... OMIM:613398
Gm1 Gangliosidosis
Low-set ears, Optic atrophy, Long philtrum, Camptodactyly of finger, Frontal bossing, Gingival ov... ORPHA:354
Freeman-Sheldon Syndrome
Abnormality of the dentition, Hearing impairment, Long philtrum, Camptodactyly of finger, Narrow ... ORPHA:2053
Peters-Plus Syndrome
Low-set ears, Hearing impairment, Micrognathia, Short lingual frenulum, Limited elbow movement, S... OMIM:261540
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Hearing impairment, Abnormal heart morphology, Ventricular septal defect... ORPHA:284169
Intellectual Developmental Disorder, Autosomal Dominant 43
Umbilical hernia, Gingival overgrowth, Narrow mouth, Increased overbite, Thin upper lip vermilion... OMIM:616977
10Q22.3Q23.3 Microduplication Syndrome
Low-set ears, Tetralogy of Fallot, Microretrognathia, Chronic otitis media ORPHA:276422
Pachyonychia Congenita
Onychogryposis of fingernail, Alopecia, Onychogryposis of toenails, Fingernail dysplasia, Nail dy... ORPHA:2309
Hallermann-Streiff Syndrome
High, narrow palate, Abnormality of the dentition, Small hand, Natal tooth, Micrognathia, Narrow ... ORPHA:2108
Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome
Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Ankle clonus, Hig... ORPHA:280384
Craniofrontonasal Syndrome
Breast hypoplasia, Ridged nail, Low posterior hairline, Unilateral breast hypoplasia, Curly hair,... OMIM:304110
Gaucher Disease, Perinatal Lethal
Low-set ears, Everted upper lip vermilion, Retrognathia, Micrognathia, Open mouth, Narrow mouth, ... OMIM:608013
Oculofaciocardiodental Syndrome
Tooth malposition, Abnormality of the dentition, Narrow face, Delayed eruption of teeth, Hearing ... ORPHA:2712
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Netherton Syndrome
Sparse eyebrow, Irregular hyperpigmentation, Fine hair, Abnormal hair morphology, Trichorrhexis n... ORPHA:634
Fixed Subaortic Stenosis
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... ORPHA:3092
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Alopecia, Abnormal fingernail morphology, Palmoplantar hyperhidrosis, Anhidrosis, Sparse hair ORPHA:659
Perlman Syndrome
Low-set ears, Interrupted aortic arch, Micrognathia OMIM:267000
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Autoimmune thrombocytopenia, Abnormal B cell count OMIM:613496
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Loose anagen hair, Multiple lentigines, Long eyelashes, Hyperpigmentation of the skin, Curly hair... OMIM:607721
Kilquist Syndrome
Low-set ears, Mandibular prognathia, Xerostomia, Intestinal malrotation, Stenosis of the external... OMIM:619080
Radio-Tartaglia Syndrome
Low-set ears, High, narrow palate, Conductive hearing impairment, Hearing impairment, Long philtr... OMIM:619312
Wieacker-Wolff Syndrome, Female-Restricted
Low-set ears, Hip dislocation, Microretrognathia, Downturned corners of mouth, Long philtrum, Hip... OMIM:301041
Malan Overgrowth Syndrome
Narrow face, Plagiocephaly, Scaphocephaly, Narrow mouth, Oval face, Low posterior hairline, Facia... ORPHA:420179
Microcephaly-Cardiomyopathy Syndrome
Abnormality of the outer ear, Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Midface retrusion, Hearing impairment, Micrognathia, Short philtrum, Cleft palate OMIM:619074
Hydrolethalus
Low-set ears, Bifid uvula, Gingival cleft, Unilateral cleft lip, Retrognathia, Micromelia, Low-se... ORPHA:2189
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Nail dystrophy, Onychogryposis ORPHA:79395
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Abnormal oral mucosa morphology, Hypoplasia of the maxilla, Conical tooth, Everted upper lip verm... OMIM:305100
Fg Syndrome Type 1
Micrognathia, Open mouth, Sensorineural hearing impairment, Anal atresia, High palate, Widely pat... ORPHA:93932
Deafness, Neural, With Atypical Atopic Dermatitis
Sensorineural hearing impairment OMIM:221700
Shox-Related Short Stature
Micrognathia, Genu valgum, Lower limb undergrowth, Madelung deformity, Ulnar radial head dislocat... ORPHA:314795
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Low-set ears, Bifid uvula, Genu recurvatum, Flat face, Midface retrusion, Joint dislocation, Micr... OMIM:130070
Encephalocraniocutaneous Lipomatosis
Aortic valve stenosis, Interrupted aortic arch, Craniofacial hyperostosis, Abnormal aortic morpho... ORPHA:2396
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Congestive heart failure, Sensorineural hearing impairment, Paroxysmal atrial tach... ORPHA:49827
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Synostosis of carpal bones, Hearing impairment, Short thumb, Elbo... ORPHA:90650
Trichorhinophalangeal Syndrome Type 1
Abnormality of the dentition, Short distal phalanx of finger, Long philtrum, Camptodactyly of fin... ORPHA:77258
Noonan Syndrome 10
Sparse eyebrow, Hyperpigmentation of the skin, Cafe-au-lait spot, Curly hair OMIM:616564
Sulfite Oxidase Deficiency, Isolated
Fine hair OMIM:272300
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg... OMIM:618986
Mucopolysaccharidosis, Type Iiib
Hirsutism, Coarse hair, Synophrys OMIM:252920
Middle Ear Neuroendocrine Tumor
Abnormal tympanic membrane morphology, Unilateral conductive hearing impairment, Sensorineural he... ORPHA:100084
Ornithine Transcarbamylase Deficiency
Pyloric stenosis ORPHA:664
Diamond-Blackfan Anemia 21
Low-set ears, Short toe, Micrognathia, Narrow mouth, Genu valgum, Protruding ear, Cubitus valgus,... OMIM:620072
Myasthenic Syndrome, Congenital, 19
Low-set ears, Retrognathia, Micrognathia, High palate, Facial palsy OMIM:616720
Diastrophic Dysplasia
Midface retrusion, Hearing impairment, Hypoplastic cervical vertebrae, Short finger, Low-set, pos... ORPHA:628
Pallister-Hall-Like Syndrome
Microglossia, Occipital encephalocele, Micromelia, Micrognathia, Short ribs, Median cleft upper l... OMIM:241800
Trisomy 18
Webbed neck, Narrow face, Microretrognathia, Camptodactyly of finger, Low-set, posteriorly rotate... ORPHA:3380
De Barsy Syndrome
Low-set ears, Congenital hip dislocation, Delayed eruption of teeth, Umbilical hernia, Large earl... ORPHA:2962
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Low-set ears, Hyperplasia of midface, Abnormal dental morphology, Malar prominence, Micrognathia,... ORPHA:2522
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ... ORPHA:2919
Turnpenny-Fry Syndrome
Low-set ears, Small hand, Narrow mouth, Torticollis, High palate, Long face, Plagiocephaly, Downt... OMIM:618371
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Micrognathia, Narrow mouth ORPHA:1979
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Mitral valve prolapse, Ventricular septal defect, Polycystic ovaries, Bic... ORPHA:371428
Baller-Gerold Syndrome
Low-set ears, Lambdoidal craniosynostosis, Carpal synostosis, Micrognathia, Narrow mouth, Patella... OMIM:218600
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail ORPHA:257
Achondrogenesis
Flat face, Micromelia, Long philtrum, Umbilical hernia, Micrognathia, Short neck, Thickened nucha... ORPHA:932
3Mc Syndrome 2
Downturned corners of mouth, Hearing impairment, Cleft upper lip, Skull asymmetry, Prominence of ... OMIM:265050
Chanarin-Dorfman Syndrome
Alopecia OMIM:275630
Gorham-Stout Disease
Abnormal facial skeleton morphology, Hearing impairment, Abnormality of the temporomandibular joi... ORPHA:73
Al-Raqad Syndrome
Low-set ears, Flat face, Narrow mouth, Thin upper lip vermilion OMIM:616459
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Low-set ears, Natal tooth, Trigonocephaly, Scaphocephaly, Micrognathia, Sagittal craniosynostosis OMIM:616901
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hypoplasia of the maxilla, Carious teeth, Xerostomia, Hearing impairment, Selective tooth agenesi... OMIM:604292
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hypoplasia of the maxilla, Carious teeth, Conductive hearing impairment, Xerostomia, Selective to... OMIM:129900
Mandibulofacial Dysostosis, Guion-Almeida Type
Low-set ears, Preauricular skin tag, Conductive hearing impairment, Atresia of the external audit... OMIM:610536
Deafness, Autosomal Dominant 41
Tinnitus, Progressive sensorineural hearing impairment OMIM:608224
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Low-set ears, Small hand, Hearing impairment, Micrognathia, Narrow mouth, Low posterior hairline,... OMIM:309590
Lethal Recessive Chondrodysplasia
Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Macroglossia ORPHA:1423
Autosomal Recessive Amelia
Micrognathia, Amelia, Acromelia of the lower limbs, Orofacial cleft, Full cheeks, Non-midline cle... ORPHA:1027
Hereditary Acrokeratotic Poikiloderma
Gingival bleeding, Abnormality of the dentition, Xerostomia, Hearing impairment, Oral leukoplakia... ORPHA:2907
Deafness-Vitiligo-Achalasia Syndrome
EEG abnormality, Sensorineural hearing impairment ORPHA:3239
Floating-Harbor Syndrome
Low-set ears, Hypoplasia of the maxilla, Carious teeth, Conductive hearing impairment, Short thum... ORPHA:2044
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12
Narrow mouth OMIM:620461
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... OMIM:619313
Autosomal Spastic Paraplegia Type 18
Ankle flexion contracture, Elbow flexion contracture, Hip contracture, Knee flexion contracture, ... ORPHA:209951
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... OMIM:614980
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia universalis, Anonychia, Absent fingernail, Alopecia totalis OMIM:609638
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Laron Syndrome
Delayed eruption of teeth, Short toe, Tooth agenesis, Micrognathia, Microdontia, Abnormal facial ... ORPHA:633
Glanzmann Thrombasthenia 2
Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Impaired ADP-induc... OMIM:619267
Stolerman Neurodevelopmental Syndrome
Bifid uvula, Abnormality of the dentition, Mandibular prognathia, Coarse facial features, Round f... OMIM:618505
Arboleda-Tham Syndrome
Low-set ears, Enlarged proximal interphalangeal joints, Recurrent otitis media, Underdeveloped tr... OMIM:616268
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Low-set ears, Webbed neck, Cupped ear, Short neck, Double outlet right ventricle, Atrial septal d... OMIM:618223
Ectodermal Dysplasia-Blindness Syndrome
Fine hair, Abnormal fingernail morphology, Hypohidrosis, Abnormality of skin pigmentation, Sparse... ORPHA:1806
Meacham Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Scimitar anomaly, Right aortic arch, Ventricular sep... OMIM:608978
Trichohepatoneurodevelopmental Syndrome
Thoracic hypertrichosis, Coarse hair, Long eyelashes, Hypoplastic nipples, Curly hair, Woolly hai... OMIM:618268
8P23.1 Microdeletion Syndrome
Low-set ears, Hypoplastic left heart, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Atriovent... ORPHA:251071
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Joint contracture of the hand, Dental malocclusion, Conductive hearing impairment, Atresia of the... OMIM:608257
Vertebral Hypersegmentation And Orofacial Anomalies
Midface retrusion, Unilateral cleft lip, Micrognathia, Prominent occiput, Submucous cleft hard pa... OMIM:619122
Alazami Syndrome
Low-set ears, Widely spaced teeth, Malar flattening, Thick vermilion border, Short philtrum, Tria... ORPHA:319671
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Right aortic arch, Patent foramen ovale, Chronic sinusitis, Cardiomegaly,... OMIM:620642
Duplication Of The Pituitary Gland
Midface retrusion, Hearing impairment, Retrognathia, Volvulus, Brachyturricephaly, Encephalocele,... ORPHA:314621
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Bone marrow hypo... OMIM:619767
Hutchinson-Gilford Progeria Syndrome
Alopecia OMIM:176670
Pseudoleprechaunism Syndrome, Patterson Type
Hyperplasia of the maxilla, Genu valgum, Joint swelling, Thickened calvaria, Abnormal mandible co... ORPHA:2976
Seckel Syndrome 1
Low-set ears, Hip dislocation, Dental malocclusion, Dental crowding, Selective tooth agenesis, Hy... OMIM:210600
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Abnormality of canine, Intestinal bleeding, Long philtrum, Thick upper lip vermilion, Micrognathi... ORPHA:261584
Keutel Syndrome
Optic atrophy, Hearing impairment, Recurrent otitis media, Recurrent sinusitis, Ventricular septa... ORPHA:85202
Kniest Dysplasia
Rhizomelia, Conductive hearing impairment, Midface retrusion, Umbilical hernia, Recurrent otitis ... OMIM:156550
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Short tibia, Large placenta, Micrognathia, Narrow mouth, Short neck, Hypopl... ORPHA:96334
Fetal Alcohol Syndrome
Narrow face, Low-set, posteriorly rotated ears, Micrognathia, Microdontia, Thin upper lip vermili... ORPHA:1915
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Low-set ears, Flat face, Micrognathia, Malar flattening, Protruding tongue, Sinusitis, Macroglossia OMIM:242860
Isolated Klippel-Feil Syndrome
Webbed neck, Hearing impairment, Abnormal cranial nerve morphology, Congenital muscular torticoll... ORPHA:2345
Mucopolysaccharidosis, Type Iiia
Hirsutism, Coarse hair, Synophrys OMIM:252900
Abnormal Hair, Joint Laxity, And Developmental Delay
Alopecia, Sparse lateral eyebrow, Small nail, Trichorrhexis nodosa, Pili torti, Fragile nails OMIM:261990
Fetal Akinesia Deformation Sequence 1
Low-set ears, High, narrow palate, Long philtrum, Camptodactyly of finger, Small placenta, Increa... OMIM:208150
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Spinal dysraphism, Low-set, posteriorly rotated ears, Tetralogy of Fallot,... ORPHA:1908
Marshall-Smith Syndrome
Optic atrophy, Conductive hearing impairment, Retrognathia, Gingival overgrowth, Open mouth, Prot... ORPHA:561
Rubinstein-Taybi Syndrome 1
Low-set ears, Hearing impairment, Delayed cranial suture closure, Micrognathia, Narrow mouth, Low... OMIM:180849
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Lymphedema, Primary, With Myelodysplasia
Leukemia, Pancytopenia, Acute myeloid leukemia, Decreased CD4:CD8 ratio OMIM:614038
Pycnodysostosis
Aplastic clavicle, Carious teeth, Persistent open anterior fontanelle, Frontal bossing, Persisten... OMIM:265800
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Congenital hip dislocation, Hypoplasia of the odontoid process, Midface retrusion, Long philtrum,... OMIM:616007
Xq21 Microdeletion Syndrome
Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Stapes ankylosis... ORPHA:1435
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:617205
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Abnormal aortic morphology, Sensorineural hearing impairment, Arrhythmia, Hyperte... ORPHA:3222
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Low-set ears, Flat face, Mandibular prognathia, Unilateral cleft lip, Focal polymicrogyria, Thick... OMIM:619103
Cutis Laxa, Autosomal Recessive, Type Iiia
Low-set ears, Congenital hip dislocation, Umbilical hernia, Narrow mouth, Wide cranial sutures, W... OMIM:219150
Renpenning Syndrome 1
Narrow face, Mandibular prognathia, Joint contracture of the hand, Cupped ear, Hearing impairment... OMIM:309500
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Small hand, Large fleshy ears, Narrow mouth, Short neck, Anal atresia, High palate, Short foot, P... ORPHA:280633
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl... OMIM:300400
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arterial hypertension, Atrial septal defe... OMIM:300887
Deafness, Conductive, With Malformed External Ear
Low-set ears, Abnormality of the middle ear ossicles, Conductive hearing impairment, Abnormal pin... OMIM:221300
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Congenital Disorder Of Glycosylation, Type Iia
Low-set ears, Mandibular prognathia, Retrognathia, Long philtrum, Diastema, Macrodontia, Wide mou... OMIM:212066
Femoral-Facial Syndrome
Low-set ears, Micrognathia, Encephalocele, Truncus arteriosus, Ventricular septal defect, Coarcta... OMIM:134780
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Short distal phalanx of finger, Mandibular prognathia, Plagiocephaly, Midface retrusion, Downturn... OMIM:239300
Recombinant 8 Syndrome
Low-set ears, Abnormality of the outer ear, Abnormality of the dentition, Hearing impairment, Dow... ORPHA:96167
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Abnormality of the pulmonary artery, Abnormal mitral valve m... ORPHA:1354
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Double outlet right ventricle, Hydrocephalus, Atrial septal defect,... OMIM:614886
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of... OMIM:242700
Sézary Syndrome
Alopecia, Irregular hyperpigmentation, Nail dystrophy ORPHA:3162
Orofaciodigital Syndrome Xvii
Low-set ears, Hearing impairment, Retrognathia, Tetralogy of Fallot, Short neck OMIM:617926
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Low-set ears, Conductive hearing impairment, Anterior open-bite malocclusion, Arrhythmia, Perimem... OMIM:617877
Icf Syndrome
Low-set ears, Flat face, Umbilical hernia, Micrognathia, Protruding tongue, Macroglossia ORPHA:2268
Isotretinoin Embryopathy-Like Syndrome
Anotia, Micrognathia, Cleft palate, Microtia OMIM:243440
Dysosteosclerosis
Optic atrophy, Natal tooth, Absent paranasal sinuses, Delayed eruption of teeth, Hearing impairme... OMIM:224300
Arthrogryposis, Distal, Type 2B3
Triangular face, Narrow mouth OMIM:618436
Ossicular Malformations, Familial
Abnormality of the middle ear ossicles, Congenital conductive hearing impairment OMIM:165680
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Midface retrusion, Enlarged joints, Short 5th metacarpal, Premature osteoarthritis, Micrognathia,... OMIM:215150
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... OMIM:617297
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormal earlobe morphology, Umbilical hernia, Recurrent otitis media, Congenital sensorineural h... ORPHA:500159
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased... OMIM:619510
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent otitis media, Situs inversus totalis, Atrial situs inversus, Ven... OMIM:615067
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Low-set ears, Hearing impairment, Recurrent otitis media, Abnormal heart morphology, Increased nu... OMIM:618494
Trisomy 13
Low-set ears, High, narrow palate, Abnormal helix morphology, Abnormality of the middle ear, Abno... ORPHA:3378
Craniofacial Dyssynostosis With Short Stature
Malar flattening, Ventricular septal defect, Hydrocephalus, Abnormal location of ears, Patent duc... OMIM:218350
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Hirsutism OMIM:615830
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Camptodactyly, Arthrogryposis multiplex congenita, Pyloric stenosis OMIM:614262
Mulibrey Nanism
Microglossia, Dental malocclusion, Dental crowding, Absent frontal sinuses, Hypodontia, Enamel hy... OMIM:253250
Mucopolysaccharidosis, Type Iiic
Hirsutism, Hypertrichosis, Coarse hair, Synophrys OMIM:252930
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Prelingual sensorineural hearing impairment, Progressive sensorineural hearing impairment, Genu v... ORPHA:436174
Multiple Pterygium Syndrome, Lethal Type
Low-set ears, Joint dislocation, Short finger, Micrognathia, Multiple pterygia, Abnormal facial s... OMIM:253290
Distal Duplication 17Q
Rhizomelia, Frontal bossing, Low-set, posteriorly rotated ears, Micrognathia, Genu valgum, Abduce... ORPHA:3379
Congenital Disorder Of Glycosylation, Type 2V
Low-set ears, Retrognathia, Low posterior hairline, Protruding ear, Thin upper lip vermilion, Sho... OMIM:619493
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Sen... OMIM:609136
Congenital Disorder Of Deglycosylation 2
Genu recurvatum, Macroglossia, Hearing impairment, Polymicrogyria, Hamartoma of tongue, Micrognat... OMIM:619775
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal helix morphology, Tricuspid regurgitation, Atrioventricular canal defect, Abnormal aorti... ORPHA:1120
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
Alopecia OMIM:620651
Fetal Valproate Spectrum Disorder
Thin vermilion border, Narrow mouth, Downturned corners of mouth, Long philtrum ORPHA:1906
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Diastema, Bicoronal synostosis, Agenesis of molar, Anterior plagiocephaly, Microdontia, Supernume... OMIM:619718
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Abnormality of the outer ear, Hearing impairment, Widely spaced teeth, Recurrent otitis media, Mi... ORPHA:2728
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia, Pate... OMIM:616276
Pelvis-Shoulder Dysplasia
Hydranencephaly, Microglossia, Camptodactyly of finger, Micrognathia, Mesomelic/rhizomelic limb s... ORPHA:2839
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Abnormal facial shape, Mandibular prognathia, Wide mouth ORPHA:411515
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Duodenal stenosis, Camptodactyly of finger, Micrognathia, Frontal bossing, Microtia ORPHA:2547
Ring Chromosome 7 Syndrome
Short 5th finger, Bifid uvula, Small hand, Flat face, Plagiocephaly, Prominent crus of helix, Gen... ORPHA:1449
Bleeding Disorder, Platelet-Type, 11
Epistaxis, Abnormal platelet count, Impaired ristocetin-induced platelet aggregation, Impaired co... OMIM:614201
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Low-set ears, Small hand, Widely spaced teeth, Mild hearing impairment, Trigonocephaly, Scaphocep... ORPHA:459061
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Long philtrum, Narrow mouth, Oligodontia, Thin upper lip vermilion, Hypodontia, Microdontia OMIM:618092
Tarp Syndrome
Low-set ears, Optic atrophy, Prominent antihelix, Meckel diverticulum, Micrognathia, Neonatal dea... OMIM:311900
Frias Syndrome
Posteriorly rotated ears, Micrognathia, Cupped ear OMIM:609640
Fliedner-Zweier Syndrome
Multicystic kidney dysplasia, Hypoplastic aortic arch, Ventricular septal defect, Bicuspid aortic... OMIM:620511
Flynn-Aird Syndrome
Alopecia ORPHA:2047
Moebius Syndrome
Aplasia/Hypoplasia of the radius, Hearing impairment, Aplasia/Hypoplasia of the tongue, Tooth age... ORPHA:570
Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome
Preauricular skin tag, Underdeveloped tragus, Preauricular pit, Abnormality of mouth shape, Wide ... ORPHA:83619
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Congestive he... ORPHA:3400
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Abnormality of frontal sinus, Short thumb, Micrognathia, Radioulnar synostos... ORPHA:436003
Hall-Riggs Syndrome
Coarse hair, Thick hair, Slow-growing hair ORPHA:2107
Cog1-Cdg
Broad neck, Rhizomelia, Long philtrum, Low-set, posteriorly rotated ears, Micrognathia, Narrow mo... ORPHA:263508
Fountain Syndrome
Craniofacial hyperostosis, Short distal phalanx of finger, Midface retrusion, Thick lower lip ver... ORPHA:3219
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Low-set ears, Cupped ear, Retrognathia, Midface retrusion, Micrognathia, Thin upper lip vermilion... OMIM:617101
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Low-set ears, Retrognathia, Camptodactyly of finger, Short philtrum, Wide mouth ORPHA:1194
X-Linked Intellectual Disability, Wilson Type
Mandibular prognathia, Square face, Brachycephaly, Thick vermilion border, Wide mouth ORPHA:85290
Intellectual Developmental Disorder, Autosomal Dominant 1
Low-set ears, Micrognathia, Open mouth, Low posterior hairline, Everted lower lip vermilion, Shor... OMIM:156200
Femoral-Facial Syndrome
Low-set ears, Aplasia/Hypoplasia of the tibia, Short femur, Long philtrum, Micrognathia, Thin upp... ORPHA:1988
Autoimmune Polyendocrinopathy Type 1
Abnormal fingernail morphology, Alopecia, Hypopigmented skin patches ORPHA:3453
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Fine hair ORPHA:228390
Ohdo Syndrome, Sbbys Variant
Low-set ears, Hearing impairment, Micrognathia, Prominent occiput, Microdontia, Thin upper lip ve... OMIM:603736
Brachycephaly, Trichomegaly, And Developmental Delay
Highly arched eyebrow, Long eyelashes, Thick eyebrow, Brittle hair, Synophrys OMIM:617412
Arthrogryposis, Distal, Type 12
Low-set ears, Ankle flexion contracture, Dental crowding, Knee flexion contracture, Congenital fi... OMIM:620545
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hearing impairment, Downturned corners of mouth, Widely spaced teeth, Elbow flexion contracture, ... OMIM:300868
8P Inverted Duplication/Deletion Syndrome
High, narrow palate, Preauricular skin tag, Retrognathia, Long philtrum, Micrognathia, Abnormalit... ORPHA:96092
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Low-set ears, Cleft lip, Microretrognathia, Downturned corners of mouth, Long philtrum, Protrudin... OMIM:618571
Bilateral Polymicrogyria
Low-set ears, Difficulty in tongue movements, Micrognathia, Facial diplegia, Abnormal glossophary... ORPHA:268940
Cree Impaired Intellectual Development Syndrome
Low-set ears, Webbed neck, Cleft soft palate, Micrognathia, Brachycephaly, Aplasia/Hypoplasia of ... OMIM:606851
Trichodermodysplasia-Dental Alterations Syndrome
Sparse lateral eyebrow, Fine hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... ORPHA:3353
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... OMIM:308240
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Abnormal T cell count, Hepatic hemophagocytosis, Abnormal B cell count, Autoimmune hemolytic anem... OMIM:620430
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Taurodontia, Pulp calcification, Enamel hypoplasia OMIM:211900
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Broad neck, Midface retrusion, Downturned corners of mouth, Broad face, Malar flattening, Low pos... OMIM:300860
Stevenson-Carey Syndrome
Low-set ears, Joint contracture of the hand, Downturned corners of mouth, Narrow mouth, Brachycep... OMIM:611961
Blepharophimosis-Impaired Intellectual Development Syndrome
Low-set ears, Short distal phalanx of finger, Flat face, Plagiocephaly, Dental malocclusion, Wide... OMIM:619293
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... ORPHA:261243
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... OMIM:618719
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Hemiatrophy of upper limb, Downturned corners of mouth, Long philtrum, Micrognathia, Delayed pate... ORPHA:163649
Marshall-Smith Syndrome
Low-set ears, Hypoplasia of the odontoid process, Bilateral conductive hearing impairment, Hearin... OMIM:602535
Adams-Oliver Syndrome 2
Alopecia, Small nail, Low anterior hairline OMIM:614219
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Low-set ears, Cleft lip, Midface retrusion, Retrognathia, Joint contracture of the 5th finger, Ex... OMIM:620098
Mucopolysaccharidosis, Type Iva
Cervical myelopathy, Mandibular prognathia, Carious teeth, Hypoplasia of the odontoid process, He... OMIM:253000
Frank-Ter Haar Syndrome
Low-set ears, Secundum atrial septal defect, Dental malocclusion, Micrognathia, Redundant neck sk... OMIM:249420
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic... ORPHA:2248
You-Hoover-Fong Syndrome
Double aortic arch, Coarctation of aorta, Hearing impairment, Vascular ring OMIM:616954
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Narrow mouth, Oral mucosal blisters, Abnormal esophagus morphology, Spontaneous esophageal perfor... OMIM:226600
Orofaciodigital Syndrome Vi
Low-set ears, Conductive hearing impairment, Lobulated tongue, Cleft upper lip, Short femur, Hama... OMIM:277170
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Vestibular areflexia, Sensorineural hearing impairment OMIM:609006
Aicardi Syndrome
Optic atrophy, Small hand, Block vertebrae, Plagiocephaly, Cleft upper lip, Optic disc coloboma, ... ORPHA:50
Intellectual Developmental Disorder, Autosomal Dominant 66
Low-set ears, Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great art... OMIM:619910
Spondylodysplastic Ehlers-Danlos Syndrome
Low-set ears, Hearing impairment, Subluxation of the small joints of the hand, Micrognathia, Narr... ORPHA:536471
Autosomal Dominant Omodysplasia
Rhizomelia, Short 1st metacarpal, Elbow dislocation, Long philtrum, Micrognathia, Malar flattenin... ORPHA:93328
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... OMIM:613759
Branchiootic Syndrome 3
Preauricular skin tag, Branchial cyst, Preauricular pit, Sensorineural hearing impairment, Commis... OMIM:608389
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Plagiocephaly, Retrognathia, Trigonocephaly, Micrognathia, Decreased calvarial ossification, Cran... OMIM:618265
Orofaciodigital Syndrome I
Low-set ears, Carious teeth, Hearing impairment, Ankyloglossia, High palate, Gray matter heteroto... OMIM:311200
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis OMIM:188025
Campomelic Dysplasia
Low-set ears, Hypoplastic scapulae, Carious teeth, Hypoplastic cervical vertebrae, Hearing impair... OMIM:114290
Stickler Syndrome, Type I
Bifid uvula, Conductive hearing impairment, Midface retrusion, Micrognathia, Malar flattening, Su... OMIM:108300
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Low-set ears, Broad neck, Cupped ear, Retrognathia, Optic disc coloboma, Lop ear, Sensorineural h... OMIM:300472
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Optic atrophy, Microretrognathia, Plagiocephaly, Downturned corners of mouth, Low-set, posteriorl... ORPHA:457193
Fibrochondrogenesis
Low-set ears, Hypoplastic scapulae, Plagiocephaly, Micromelia, Camptodactyly of finger, Hearing a... ORPHA:2021
Short Stature And Facioauriculothoracic Malformations
Low-set ears, Cupped ear, Ventricular septal defect, Short neck, Overfolded helix, Microtia OMIM:609654
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... ORPHA:79433
Fetal Akinesia Deformation Sequence
Camptodactyly of finger, Pterygium, Micrognathia, Intestinal hypoplasia, Cystic hygroma, Posterio... ORPHA:994
Robinow Syndrome, Autosomal Recessive 2
Low-set ears, Abnormality of the dentition, Midface retrusion, Long philtrum, Frontal bossing, Cl... OMIM:618529
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia OMIM:600785
Lelis Syndrome
Carious teeth, Midface retrusion, Furrowed tongue, Hypodontia, Mandibular prognathia, Long face ORPHA:140936
Pettigrew Syndrome
Optic atrophy, Mandibular prognathia, High-frequency hearing impairment, Sensorineural hearing im... OMIM:304340
Intellectual Disability-Strabismus Syndrome
Low-set ears, Abnormality of the dentition, Joint contracture of the hand, Plagiocephaly, Hearing... ORPHA:363528
Hamamy Syndrome
Low-set ears, Preauricular skin tag, Hyperplasia of midface, Dental malocclusion, Long philtrum, ... OMIM:611174
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype... OMIM:601859
Cardiospondylocarpofacial Syndrome
Low-set ears, Conductive hearing impairment, Fusion of middle ear ossicles, Recurrent otitis medi... OMIM:157800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Woolly hair OMIM:610193
Kapur-Toriello Syndrome
Low-set ears, Atresia of the external auditory canal, Tetralogy of Fallot, Ventricular septal def... ORPHA:2328
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Low-set ears, Patent foramen ovale, Short neck, Transposition of the great arteries, Macrotia OMIM:616789
Mucopolysaccharidosis Type 2, Severe Form
Optic atrophy, Otosclerosis, Conductive hearing impairment, Umbilical hernia, Temporomandibular j... ORPHA:217085
Seckel Syndrome 2
Micrognathia, Microglossia, Microdontia OMIM:606744
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Long philtrum, Abnormality of the wrist, Sensorineural hearing impairment, Facial asymmetry, Deep... ORPHA:1825
Schwartz-Jampel Syndrome
Elbow dislocation, Pursed lips, Micrognathia, Narrow mouth, Genu valgum, Hip contracture, Short n... ORPHA:800
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Low-set ears, Hearing impairment, Hypoplasia of the maxilla, Absent thumb, Downturned corners of ... ORPHA:500150
Postaxial Acrofacial Dysostosis
Low-set ears, Congenital hip dislocation, Conical tooth, Cupped ear, Conductive hearing impairmen... OMIM:263750
Carey-Fineman-Ziter Syndrome
Long philtrum, Aplasia/Hypoplasia of the tongue, Micrognathia, Facial palsy, Cranial nerve paraly... ORPHA:1358
Netherton Syndrome
Brittle scalp hair, Sparse eyebrow, Sparse scalp hair, Brittle hair OMIM:256500
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Frontal bossing, Micrognathia, Wide mouth, Thin upper lip vermilion, Short philtrum, High palate,... ORPHA:363686
Down Syndrome
Narrow mouth, Open mouth, Protruding tongue, Short neck, Round ear, Celiac disease, Anal atresia,... ORPHA:870
Coffin-Siris Syndrome 11
Bifid uvula, Small hand, Downturned corners of mouth, Frontal bossing, Cleft soft palate, Low pos... OMIM:618779
Doors Syndrome
Low-set ears, Atresia of the external auditory canal, Short lingual frenulum, Open mouth, Aplasia... ORPHA:79500
Holoprosencephaly 7
Flat face, Hypoplasia of the premaxilla, Midface retrusion, Unilateral cleft lip, Frontal bossing... OMIM:610828
Acrofacial Dysostosis, Cincinnati Type
Low-set ears, Hearing impairment, Recurrent otitis media, Median pseudocleft lip, Micrognathia, H... OMIM:616462
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Hearing impairment, Bradycardia OMIM:616277
Igg4-Related Aortitis
Abnormal aortic arch morphology, Aortic dissection, Hypereosinophilia, Abnormal common carotid ar... ORPHA:449400
46,Xy Sex Reversal 4
Long philtrum, Recurrent otitis media, Trigonocephaly, Distal symphalangism, Micrognathia, Sensor... OMIM:154230
Zaki Syndrome
Preauricular skin tag, Cupped ear, Median pseudocleft lip, Micrognathia, Hypoplasia of the phalan... OMIM:619648
Orofaciodigital Syndrome Type 6
Midline notch of upper alveolar ridge, Conductive hearing impairment, Frontal bossing, Low-set, p... ORPHA:2754
Autosomal Recessive Faciodigitogenital Syndrome
Long neck, Long philtrum, Frontal bossing, Open bite, Micrognathia, Wide mouth, Brachycephaly, De... ORPHA:1974
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Low-set ears, Optic atrophy, Micrognathia, Bilateral sensorineural hearing impairment, High palat... OMIM:620089
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Sensorineural h... OMIM:249270
Immunodeficiency 115 With Autoinflammation
Anemia, Decreased proportion of memory T cells, T lymphocytopenia, Splenomegaly OMIM:620632
Fgfr2-Related Bent Bone Dysplasia
Low-set ears, Abnormality of the outer ear, Coronal craniosynostosis, Natal tooth, Midface retrus... ORPHA:313855
Intellectual Developmental Disorder, X-Linked 112
Cupped ear, Abnormal heart morphology, Right aortic arch, Bicuspid aortic valve, Renal cyst, Panc... OMIM:301111
Hydrolethalus Syndrome 2
Micrognathia, Anencephaly, Cleft palate OMIM:614120
Cerebrocostomandibular Syndrome
Webbed neck, Hydranencephaly, Conductive hearing impairment, Atresia of the external auditory can... ORPHA:1393
Usher Syndrome, Type Ie
Congenital sensorineural hearing impairment, Vestibular areflexia OMIM:602097
Mandibuloacral Dysplasia
Dental crowding, Increased adipose tissue around the neck, Abnormal tongue morphology, Delayed cr... ORPHA:2457
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Dry hair, Nail dystrophy, Brittle hair ORPHA:93947
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Alopecia, Supernumerary nipple ORPHA:3224
Spondyloepiphyseal Dysplasia Congenita
Aplasia/hypoplasia involving bones of the extremities, Flat face, Hearing impairment, Upper limb ... ORPHA:94068
9Q33.3Q34.11 Microdeletion Syndrome
Low-set ears, Webbed neck, Plagiocephaly, Tented philtrum, Patellar hypoplasia, Esophagitis, Narr... ORPHA:495818
Microphthalmia With Limb Anomalies
Low-set ears, Finger aplasia, Retrognathia, Cleft upper lip, Camptodactyly of 2nd-5th fingers, Fo... OMIM:206920
Mucopolysaccharidosis Type 2, Attenuated Form
Optic atrophy, Otosclerosis, Conductive hearing impairment, Umbilical hernia, Temporomandibular j... ORPHA:217093
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Broad neck, Midface retrusion, Short toe, Long philtrum, Thick lower lip vermilion, Thick upper l... OMIM:611717
Trichothiodystrophy 1, Photosensitive
Small nail, Fine hair, Trichorrhexis nodosa, Tiger tail banding, Nail dystrophy, Trichoschisis, P... OMIM:601675
Fontaine Progeroid Syndrome
Low-set ears, Micrognathia, Narrow mouth, Protruding tongue, Neonatal death, Low posterior hairli... OMIM:612289
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Low-set ears, Webbed neck, Flat face, Unilateral cleft lip, Large fleshy ears, Micrognathia, Shor... OMIM:616897
Craniolenticulosutural Dysplasia
Bifid uvula, Optic atrophy, Carious teeth, Midface retrusion, Delayed eruption of teeth, Long phi... OMIM:607812
Kabuki Syndrome 2
Low-set ears, Short 5th finger, Natal tooth, Hearing impairment, Cupped ear, Dental malocclusion,... OMIM:300867
Cerebrocostomandibular Syndrome
Low-set ears, Carious teeth, Cleft soft palate, Micrognathia, Short hard palate, High palate, Pie... OMIM:117650
Oculogastrointestinal Muscular Dystrophy
Skeletal muscle atrophy, Intestinal pseudo-obstruction, Abnormal gastric mucosa morphology, Myopa... ORPHA:1876
Frontometaphyseal Dysplasia 1
Hearing impairment, Partial fusion of carpals, Carpal synostosis, Genu valgum, Sensorineural hear... OMIM:305620
Intellectual Developmental Disorder, Autosomal Dominant 48
Low-set ears, Umbilical hernia, Recurrent otitis media, Sensorineural hearing impairment, Ventric... OMIM:617751
Microphthalmia, Syndromic 2
Aortic valve stenosis, Cupped ear, Delayed eruption of teeth, Dental malocclusion, Umbilical hern... OMIM:300166
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Low-set ears, Mandibular prognathia, Prominent crus of helix, Open mouth, Protruding tongue, Smal... OMIM:617804
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Alopecia, Sparse hair, Fragile nails OMIM:242150
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Optic atrophy, Retrognathia, Micrognathia, Gingival overgrowth, Abnormal facial shape, Anal atres... ORPHA:480898
Chromosome 15Q14 Deletion Syndrome
Low-set ears, Posteriorly rotated ears, Atrial septal defect, Ventricular septal defect OMIM:616898
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Low-set ears, Bifid uvula, Downturned corners of mouth, Long philtrum, Intestinal malrotation, Mi... ORPHA:404440
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Absent paranasal sinuses, Hearing impairment, Micrognathia, Delayed eruptio... OMIM:119600
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Conical tooth, Hearing impairment, Widely spaced teeth, Aplasia of the inner ear, Micrognathia, A... ORPHA:90024
Melnick-Needles Syndrome
Tooth malposition, Craniofacial hyperostosis, Short distal phalanx of finger, Delayed eruption of... ORPHA:2484
Atrial Septal Defect 2
Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def... OMIM:607941
Carey-Fineman-Ziter Syndrome 1
Microglossia, Plagiocephaly, Retrognathia, Oculomotor nerve palsy, Micrognathia, Abducens palsy, ... OMIM:254940
Trichorhinophalangeal Syndrome, Type Iii
Sparse hair, Sparse lateral eyebrow, Fine hair OMIM:190351
Cerebrooculonasal Syndrome
Low-set ears, Narrow palate, Conductive hearing impairment, Downturned corners of mouth, Long phi... OMIM:605627
Hypotrichosis 14
Sparse pubic hair, Sparse body hair, Absent axillary hair, Sparse hair, Short eyelashes OMIM:618275
Holocarboxylase Synthetase Deficiency
Alopecia ORPHA:79242
Familial Aortic Dissection
Aortic regurgitation, Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection... ORPHA:229
Mucopolysaccharidosis Type 2
Optic atrophy, Hip osteoarthritis, Otosclerosis, Conductive hearing impairment, Umbilical hernia,... ORPHA:580
Trisomy 20P
Micrognathia, Abnormal antihelix morphology, Low posterior hairline, Short neck, Round face, Ever... ORPHA:261318
Faciodigitogenital Syndrome, Autosomal Recessive
Narrow palate, Dental malocclusion, Long neck, Hearing impairment, Wide mouth, Brachycephaly, Dee... OMIM:227330
Waardenburg Syndrome Type 1
Hearing impairment, Cleft upper lip, Congenital sensorineural hearing impairment, Tented upper li... ORPHA:894
Platyspondylic Dysplasia, Torrance Type
Low-set ears, Short distal phalanx of finger, Hypoplastic scapulae, Micromelia, Malar flattening,... ORPHA:85166
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Protruding tongue, Smooth philtrum, Coarse facial features, Everted lower lip vermilion, Overfold... ORPHA:324410
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Mitral regurgitation, Ventricular septal defect, Protruding ear, Atrial sep... OMIM:301039
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... OMIM:617237
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc... ORPHA:263665
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Hirsutism, Low anterior hairline, Broad eyebrow, Woolly hair OMIM:619244
3P25.3 Microdeletion Syndrome
High, narrow palate, Abnormality of the outer ear, Downturned corners of mouth, Micrognathia, Kne... ORPHA:435638
3C Syndrome
Aortic valve stenosis, Low-set ears, Optic atrophy, Hypoplastic left heart, Tetralogy of Fallot, ... ORPHA:7
Mucopolysaccharidosis Type 4
Abnormality of the dentition, Carious teeth, Joint dislocation, Hearing impairment, Abnormal dent... ORPHA:582
Silver-Russell Syndrome Due To A Point Mutation
Low-set ears, Short 5th finger, Small placenta, Micrognathia, Triangular face, Frontal bossing, C... ORPHA:397590
Deeah Syndrome
Low-set ears, Narrow palate, Hearing impairment, Long philtrum, Retrognathia, Narrow mouth, Low p... OMIM:619004
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... OMIM:204700
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Everted upper lip vermilion, Hyperplasia of the maxilla, Widely spaced teeth, Recurrent otitis me... ORPHA:513456
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co... ORPHA:1686
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Low-set ears, Exaggerated median tongue furrow, Cleft mandible, Micrognathia, Sensorineural heari... OMIM:608670
Fetal Hydantoin Syndrome
Low posterior hairline, Coarse hair, Hypoplastic fingernail ORPHA:1912
Weiss-Kruszka Syndrome
Low-set ears, Cupped ear, Hearing impairment, Horizontal crus of helix, Dextrotransposition of th... OMIM:618619
Distal Deletion 3P
Hearing impairment, Downturned corners of mouth, Umbilical hernia, Low-set, posteriorly rotated e... ORPHA:1620
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes
Small hand, Long philtrum, Thin upper lip vermilion, Perianal abscess, Abnormal facial shape, Ove... OMIM:614684
Ogden Syndrome
Low-set ears, Cardiogenic shock, Microretrognathia, Ventricular septal defect, Pulmonary artery s... ORPHA:276432
Transaldolase Deficiency
Low-set ears, Patent foramen ovale, Ventricular septal defect, Telangiectasia, Short neck, Coarct... OMIM:606003
Chromosome 15Q11.2 Deletion Syndrome
Plagiocephaly, Macrotia, Short finger, Micrognathia, Irregular dentition, Small face, Smooth phil... OMIM:615656
Robinow Syndrome, Autosomal Dominant 1
Low-set ears, Small hand, Micrognathia, Short lingual frenulum, Short hard palate, Short neck, Hi... OMIM:180700
Acrofacial Dysostosis 1, Nager Type
Low-set ears, Velopharyngeal insufficiency, Atresia of the external auditory canal, Micrognathia,... OMIM:154400
Viss Syndrome
Low-set ears, Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Exostosis ... OMIM:619472
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Low-set ears, Umbilical hernia, Patent foramen ovale, Ventricular septal defect, Protruding ear, ... ORPHA:329224
Satoyoshi Syndrome
Abnormal hair morphology, Alopecia universalis, Sparse or absent eyelashes ORPHA:3130
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Micrognathia, Esophagitis, Abnormal facial shape, Full cheeks, Wide mouth ORPHA:79350
Incontinentia Pigmenti
Alopecia, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Ridged... OMIM:308300
Cdags Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Midface retrusion, Parietal foramina, Dela... OMIM:603116
Faciocardiorenal Syndrome
Plagiocephaly, Narrow mouth, Protruding ear, Smooth philtrum, Hypodontia, Cleft palate ORPHA:1973
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Low-set ears, Microretrognathia, Joint dislocation, Hearing impairment, Long philtrum, Umbilical ... OMIM:601776
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Immunodeficiency, Common Variable, 2
Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:240500
Char Syndrome
Hearing impairment, Persistence of primary teeth, Malar flattening, Ventricular septal defect, Pa... ORPHA:46627
Restrictive Dermopathy 2
Short clavicles, Hypoplastic facial bones, Microretrognathia, Rectal prolapse OMIM:619793
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Low-set ears, Optic atrophy, Hearing impairment, Sensorineural hearing impairment, Ventricular se... OMIM:220500
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Vascular ring, Natal tooth, Conductive hearing impairment, Carious teeth, ... ORPHA:353281
Diamond-Blackfan Anemia 10
Low-set ears, Broad neck, Conductive hearing impairment, Atresia of the external auditory canal, ... OMIM:613309
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conical tooth, Conductive hearing impairment, Delayed eruption of teeth, Widely spaced teeth, Abn... ORPHA:1071
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Dental crowding, Downturned corners of mouth, Intestinal malrotation, Smooth philt... OMIM:617602
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Nail dysplasia, Alopecia, Hyperpigmentation of the skin, Nail dystrophy OMIM:175500
C Syndrome
Low-set ears, Hip dislocation, Micromelia, Dislocated radial head, Trigonocephaly, Micrognathia, ... OMIM:211750
Axenfeld-Rieger Syndrome, Type 1
Hypoplasia of the maxilla, Anal stenosis, Oligodontia, Thin upper lip vermilion, Hypodontia, Micr... OMIM:180500
Oculomaxillofacial Dysostosis
Tessier cleft, Abnormality of the dentition, Camptodactyly of finger, Micrognathia, Median cleft ... ORPHA:1794
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal cortical gyration, Long philtrum, Thick lower lip vermilion, Short ear, Narrow mouth, Me... ORPHA:314647
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Low-set ears, Secundum atrial septal defect, Ventricular septal defect, Perimembranous ventricula... OMIM:600987
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Sensorineural hearing impairment ORPHA:3225
Primrose Syndrome
Short distal phalanx of finger, Hypoplasia of the maxilla, Midface retrusion, Hearing impairment,... OMIM:259050
Marden-Walker Syndrome
Low-set ears, Bifid uvula, Retrognathia, Camptodactyly of finger, Micrognathia, Narrow mouth, Sub... ORPHA:2461
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Patellar hypoplasia, Micrognathia, Tarsal synostosis, Patellar aplasia, Talocalcaneal synostosis,... OMIM:147891
Ferguson-Bonni Neurodevelopmental Syndrome
Stenosis of the external auditory canal, High palate, Micrognathia, Hearing impairment OMIM:619699
Congenital Rubella Syndrome
Abnormality of the pulmonary artery, Ventricular septal defect, Sensorineural hearing impairment,... ORPHA:290
Contractural Arachnodactyly, Congenital
Crumpled ear, Aortic root aneurysm, Micrognathia, Mitral regurgitation, Mitral valve prolapse, Ve... OMIM:121050
Cousin Syndrome
Low-set ears, Hypoplastic scapulae, Joint contracture of the hand, Hearing impairment, Fibular ap... OMIM:260660
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Coarse hair OMIM:118650
Witteveen-Kolk Syndrome
Small hand, Hearing impairment, Hyperplasia of the maxilla, Glue ear, Narrow mouth, Open mouth, S... OMIM:613406
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Narrow mouth, Polymicrogyria ORPHA:83473
Platelet Glycoprotein Iv Deficiency
Giant platelets, Prolonged bleeding time, Thrombocytopenia OMIM:608404
Joubert Syndrome 14
Low-set ears, Optic atrophy, Encephalocele, Malar flattening, Ventricular septal defect, Renal cy... OMIM:614424
Mucoepithelial Dysplasia, Hereditary
Alopecia, Coarse hair, Chronic monilial nail infection, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158310
Langer Mesomelic Dysplasia
Increased carrying angle, Short tibia, Rudimentary fibula, Rhizomelic arm shortening, Micrognathi... OMIM:249700
Orofaciodigital Syndrome Xv
Low-set ears, Flat face, Midline notch of upper alveolar ridge, Lobulated tongue OMIM:617127
Kury-Isidor Syndrome
Alopecia, Hypertrichosis OMIM:619762
Chromosome 8Q21.11 Deletion Syndrome
Low-set ears, Square face, Downturned corners of mouth, Micrognathia, Exaggerated cupid's bow, Se... OMIM:614230
Neu-Laxova Syndrome 2
Low-set ears, Lissencephaly, Micrognathia, Short neck, Spina bifida, High palate, Cleft palate OMIM:616038
Atelosteogenesis, Type I
Low-set ears, Elbow dislocation, Fibular aplasia, Micrognathia, Encephalocele, Neonatal death, Sh... OMIM:108720
Bresek Syndrome
Alopecia ORPHA:85284
Chromosome 1P36 Deletion Syndrome, Proximal
Low-set ears, Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Microgn... OMIM:619343
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Aortic dissection, Anterior cerebral artery stenosis, Coronary artery ather... OMIM:132900
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bifid uvula, Abnormality of the dentition, Prominent antihelix, Low posterior hairline, Short nec... OMIM:615802
Autosomal Recessive Multiple Pterygium Syndrome
Low-set ears, Hearing impairment, Micrognathia, Low posterior hairline, High palate, Long face, P... ORPHA:2990
Hyperphosphatasia-Intellectual Disability Syndrome
Bifid uvula, Plagiocephaly, Cupped ear, Downturned corners of mouth, Anteriorly placed anus, Micr... ORPHA:247262
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Fine hair, Synophrys OMIM:619428
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Cerebellar atrophy, Cerebral atrophy, Sensorineural hearing ... OMIM:619260
Robinow Syndrome, Autosomal Recessive 1
Low-set ears, Small hand, Hearing impairment, Delayed cranial suture closure, Micrognathia, Short... OMIM:268310
Lissencephaly 6 With Microcephaly
Lissencephaly, Polymicrogyria, Widely spaced teeth, Periventricular heterotopia, Thin upper lip v... OMIM:616212
Multiple Benign Circumferential Skin Creases On Limbs
Long philtrum, Umbilical hernia, Low-set, posteriorly rotated ears, Micrognathia, Abnormal pinna ... ORPHA:2505
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
High, narrow palate, Midface retrusion, Thick lower lip vermilion, Wide mouth, Macrotia OMIM:617268
Basel-Vanagaite-Smirin-Yosef Syndrome
Low-set ears, Retrognathia, Furrowed tongue, Tented upper lip vermilion, Everted lower lip vermil... OMIM:616449
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Low-set ears, Optic atrophy, Downturned corners of mouth, Wide mouth, Malar flattening, Thin uppe... OMIM:618590
Holoprosencephaly 14
Low-set ears, Alobar holoprosencephaly, Ventricular septal defect, Double outlet right ventricle,... OMIM:619895
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Alopecia OMIM:600142
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Optic atrophy, Conductive hearing impairment, Hearing impairment, Atresia ... OMIM:601808
Opitz-Kaveggia Syndrome
Joint contracture of the hand, Micrognathia, Sensorineural hearing impairment, Short neck, Anal a... OMIM:305450
Grange Syndrome
Aortic regurgitation, Arterial stenosis, Ventricular septal defect, Hypertension, Patent ductus a... ORPHA:79094
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Small hand, Hearing impairment, Micrognathia, Limited elbow movement, Short neck, High palate, Sh... OMIM:610759
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyebrow, Coarse hair, Sparse eyelashes, Patchy alopecia, Scarring alopecia of scalp, Abnor... ORPHA:35173
Osteopathia Striata With Cranial Sclerosis
Low-set ears, Joint contracture of the hand, Natal tooth, Fibular aplasia, Micrognathia, Anal atr... OMIM:300373
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Sparse eyebrow, Sparse eyelashes, Thick hair, Sparse hair OMIM:607626
Chromosome 18P Deletion Syndrome
Tooth malposition, Micrognathia, Redundant neck skin, Short neck, Round face, High palate, Poster... OMIM:146390
Zimmermann-Laband Syndrome 1
Low-set ears, Short distal phalanx of finger, Mandibular prognathia, Delayed eruption of teeth, H... OMIM:135500
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Flat face, Joint contracture of the hand, Midface retrusion, Micromelia, Micrognathia, Malar flat... OMIM:224400
Mosaic Trisomy 1
Low-set ears, Microretrognathia, Thick lower lip vermilion, Camptodactyly of finger, Elbow flexio... ORPHA:1692
Robinow Syndrome, Autosomal Dominant 3
Low-set ears, Webbed neck, Mesomelia, Cleft lip, Dental malocclusion, Hearing impairment, Downtur... OMIM:616894
Fibrodysplasia Ossificans Progressiva
Alopecia OMIM:135100
Coffin-Siris Syndrome 7
Low-set ears, Hearing impairment, Downturned corners of mouth, Thick lower lip vermilion, Recurre... OMIM:618027
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Atrial reentry tachycardia, Atrioventricular canal defec... OMIM:270100
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Low-set ears, Protein-losing enteropathy, Midface retrusion, Micrognathia, Malar flattening, Redu... OMIM:235255
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Retrognathia, Tetralogy of Fallot, Micrognathia, Mitral regurgitation, M... OMIM:612561
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Low-set ears, High, narrow palate, Tessier cleft, Brachyturricephaly, Cleft upper lip, Frontal bo... OMIM:607597
Trigonocephaly With Short Stature And Developmental Delay
Low-set ears, Posteriorly rotated ears, Ventricular septal defect OMIM:314320
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Micrognathia, Wide mouth, Retrognathia OMIM:604273
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Abnormality of the dentition, Delayed eruption of teeth, Gingivitis, Craniosynostosis, Chronic ot... ORPHA:2314
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Alopecia, Sparse eyelashes, Absent eyelashes, Absent eyebrow, Freckling, Sparse scalp hair OMIM:137940
Autoimmune Lymphoproliferative Syndrome, Type Iii
Alopecia OMIM:615559
Desbuquois Syndrome
Low-set, posteriorly rotated ears, Short neck, Ventricular septal defect ORPHA:1425
Baraitser-Winter Cerebrofrontofacial Syndrome
Webbed neck, Retrognathia, Long philtrum, Optic disc coloboma, Delayed cranial suture closure, Po... ORPHA:2995
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Sparse hair, Hypohidrosis, Abnormal toenail morphology ORPHA:1005
Peroxisome Biogenesis Disorder 2A (Zellweger)
Abnormal helix morphology, Joint contracture of the hand, Micrognathia, Optic nerve dysplasia, Tu... OMIM:214110
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD... ORPHA:331206
Noonan Syndrome 2
Sparse eyebrow, Melanocytic nevus, Low posterior hairline, Hyperpigmentation of the skin, Curly h... OMIM:605275
Chromosome 13Q33-Q34 Deletion Syndrome
Hearing impairment, Micrognathia, Open mouth, Encephalocele, Irregular dentition, Anal atresia, H... OMIM:619148
Intellectual Developmental Disorder, Autosomal Dominant 29
Low-set ears, Narrow palate, Dental crowding, Hearing impairment, Long philtrum, Ankyloglossia, N... OMIM:616078
Spinocerebellar Ataxia-Dysmorphism Syndrome
Coarse hair ORPHA:1185
Achondrogenesis, Type Ii
Microretrognathia, Long philtrum, Short ribs, Brachycephaly, Stillbirth, Cystic hygroma, Frontal ... OMIM:200610
15Q Overgrowth Syndrome
Low-set ears, Abnormality of the outer ear, Contracture of the proximal interphalangeal joint of ... ORPHA:314585
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Low-set ears, Hearing impairment, Retrognathia, Ventricular septal defect, Protruding ear, Short ... OMIM:617452
Ellis Van Creveld Syndrome
Abnormal oral mucosa morphology, Abnormality of the dentition, Short distal phalanx of finger, Sy... ORPHA:289
Brain Malformations With Or Without Urinary Tract Defects
Low-set ears, Broad face, Narrow mouth, Thin upper lip vermilion, Metopic synostosis, Overfolded ... OMIM:613735
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Highly arched eyebrow, Abnormal fingernail morphology, Facial hirsutism, Long eyelashes, Thick ey... ORPHA:444077
Mucopolysaccharidosis, Type Ivb
Cervical myelopathy, Mandibular prognathia, Carious teeth, Hypoplasia of the odontoid process, He... OMIM:253010
Bernard-Soulier Syndrome
Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Impaired ristocetin-in... OMIM:231200
Apert Syndrome
Lambdoidal craniosynostosis, Synostosis of carpal bones, Hearing impairment, Delayed cranial sutu... OMIM:101200
Atelis Syndrome 1
Carious teeth, Glue ear, Ventricular septal defect, Atrial septal defect, Microtia OMIM:620184
Peroxisome Biogenesis Disorder 1A (Zellweger)
Low-set ears, Abnormal helix morphology, Hearing impairment, Micrognathia, Protruding tongue, Sen... OMIM:214100
Adrenoleukodystrophy
Alopecia, Hyperpigmentation of the skin OMIM:300100
Congenital Tracheomalacia
Abnormal pulmonary artery morphology, Abnormal heart morphology, Tetralogy of Fallot, Right aorti... ORPHA:95430
Autosomal Recessive Spastic Paraplegia Type 77
Macrodontia of permanent maxillary central incisor, Retrognathia ORPHA:466722
Congenital Myopathy 17
Low-set ears, Dental malocclusion, Long philtrum, Tented upper lip vermilion, Narrow jaw, Smooth ... OMIM:618975
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Webbed neck, Peripheral pulmonary artery stenosis, Conductive hearing impairment, Delayed eruptio... OMIM:280000
X-Linked Intellectual Disability, Armfield Type
Mandibular prognathia, Small hand, Midface retrusion, Downturned corners of mouth, Long ear, Micr... ORPHA:85276
Facioscapulohumeral Muscular Dystrophy 1
Facial palsy, Tongue atrophy, Sensorineural hearing impairment OMIM:158900
Lessel-Kubisch Syndrome
Narrow mouth OMIM:618681
19Q13.11 Microdeletion Syndrome
Sparse lateral eyebrow, Fine hair, Supernumerary nipple, Sparse or absent eyelashes, Nail dysplas... ORPHA:217346
Hemochromatosis, Type 1
Alopecia, Hyperpigmentation of the skin OMIM:235200
Jaberi-Elahi Syndrome
Sparse eyebrow, Fine hair, Sparse eyelashes, Brittle hair, Sparse hair OMIM:617988
Fryns-Smeets-Thiry Syndrome
Downturned corners of mouth, Thick lower lip vermilion, Micrognathia, Patellar aplasia, Everted l... ORPHA:2058
Autosomal Recessive Robinow Syndrome
Synostosis of carpal bones, Hearing impairment, Elbow dislocation, Open bite, Ankyloglossia, Micr... ORPHA:1507
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Tooth malposition, Optic atrophy, Retrognathia, Wide mouth, Thick vermilion border, Pachygyria, M... OMIM:619576
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Mandibular prognathia, Wide mouth, Protruding tongue, Widely spaced teeth ORPHA:98795
Orofaciodigital Syndrome X
Finger aplasia, Retrognathia, Fibular aplasia, Coalescence of tarsal bones, Cleft palate OMIM:165590
Orofaciodigital Syndrome Xiv
Low-set ears, Cleft lip, Natal tooth, Occipital encephalocele, Microretrognathia, Anteriorly plac... OMIM:615948
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti... OMIM:619802
Spondylo-Ocular Syndrome
Low-set ears, Webbed neck, Abnormal antihelix morphology, Ventricular septal defect, Low posterio... ORPHA:85194
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Pancytopenia OMIM:617341
Miller-Dieker Lissencephaly Syndrome
Low-set ears, Lissencephaly, Joint contracture of the hand, Delayed eruption of teeth, Pachygyria... OMIM:247200
Xk Aprosencephaly Syndrome
Anal atresia, Narrow mouth ORPHA:3469
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Arteria lusoria, Valvular p... OMIM:212093
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia, Dislocated radial head ORPHA:2975
Osteogenesis Imperfecta, Type Iii
Dentinogenesis imperfecta, Hearing impairment, Micrognathia, Decreased calvarial ossification, Wo... OMIM:259420
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:610163
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Plagiocephaly, Hearing impairment, Long philtrum, Simplified gyral pattern, Micrognathia, Sensori... OMIM:300749
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development
Atresia of the external auditory canal, Ventricular septal defect OMIM:209770
Benign Samaritan Congenital Myopathy
Dolichocephaly, Narrow mouth ORPHA:324581
Arthrogryposis, Distal, Type 3
Bifid uvula, Congenital hip dislocation, Camptodactyly of finger, Micrognathia, Submucous cleft h... OMIM:114300
Familial Visceral Myopathy
Umbilical hernia, Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Agang... ORPHA:2604
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Pyloric stenosis OMIM:133705
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Large earlobe, Hydrocephalus, Ventricular septal defect OMIM:602501
Lacrimoauriculodentodigital Syndrome 2
Conical tooth, Carious teeth, Cupped ear, Hearing impairment, Microdontia, Hypodontia, Microtia OMIM:620192
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
High anterior hairline, Dry hair, Coarse hair, Nail dystrophy, Woolly scalp hair, Onycholysis, Sp... OMIM:620519
Galloway-Mowat Syndrome
Abnormality of the dentition, Hypoplasia of the ear cartilage, Camptodactyly of finger, Micrognat... ORPHA:2065
Martin-Probst Syndrome
Low-set ears, Dental malocclusion, Umbilical hernia, Thick lower lip vermilion, Micrognathia, Mal... OMIM:300519
Intellectual Developmental Disorder, Autosomal Dominant 57
Midface retrusion, Narrow mouth, Otitis media, Thin upper lip vermilion, Contracture of the proxi... OMIM:618050
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Polymicrogyria, Ankyloglossia, Malar flattening, Bilateral cleft palate, Thin upper lip vermilion... OMIM:618874
Fanconi Anemia, Complementation Group B
Low-set ears, Ventricular septal defect, Short neck, Coarctation of aorta, Hydrocephalus, Overfol... OMIM:300514
Ulbright-Hodes Syndrome
Low-set ears, Potter facies, Fibular aplasia, Micrognathia, Narrow mouth, Humeroradial synostosis... ORPHA:3404
Czeizel-Losonci Syndrome
Hypoplastic helices, Myelomeningocele, Low-set, posteriorly rotated ears, Thin calvarium, Microgn... ORPHA:2437
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Low-set ears, Retrognathia, Prominent crus of helix, Elbow flexion contracture, Wide mouth, Genu ... OMIM:619194
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Alopecia OMIM:618282
Angelman Syndrome Due To A Point Mutation
Widely spaced teeth, Wide mouth, Protruding tongue, Mandibular prognathia, Flat occiput ORPHA:411511
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Aplasia/hypoplasia involving bones of the extremities, Hypoplasia of the odontoid process, Long p... ORPHA:508533
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormality of the dentition, Short distal phalanx of finger, Micrognathia, Narrow mouth, Aplasia... ORPHA:90154
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... OMIM:614954
Atelosteogenesis Type Ii
Low-set ears, Hypoplastic cervical vertebrae, Elbow dislocation, Micrognathia, Genu valgum, Bilat... ORPHA:56304
Restrictive Dermopathy 1
Low-set ears, Natal tooth, Temporomandibular joint ankylosis, Hydropic placenta, Micrognathia, Sh... OMIM:275210
Chondrodysplasia, Blomstrand Type
Preductal coarctation of the aorta, Micrognathia, Malar flattening, Stillbirth OMIM:215045
Trichothiodystrophy 3, Photosensitive
Trichorrhexis nodosa, Tiger tail banding, Brittle hair OMIM:616395
Stromme Syndrome
Low-set ears, Intestinal malrotation, Micrognathia, Jejunal atresia, Stillbirth, Wide mouth, Duod... OMIM:243605
Cooper-Jabs Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Umbilical hernia, Low-set,... ORPHA:1488
Microgastria-Limb Reduction Defect Syndrome
Truncus arteriosus, Multicystic kidney dysplasia, Atrial septal defect, Congenital muscular torti... ORPHA:2538
Robinow Syndrome
Low-set ears, Tooth malposition, Ankyloglossia, Marked delay in eruption of permanent teeth, Micr... ORPHA:97360
Singleton-Merten Syndrome 1
Hypoplasia of the maxilla, Carious teeth, Shallow acetabular fossae, Eruption failure, Joint subl... OMIM:182250
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Carious teeth, Anal fissure, Esophageal stricture, Ankyloglossia, Narrow mouth, Abnormal esophagu... ORPHA:89842
Polyendocrine-Polyneuropathy Syndrome
Alopecia ORPHA:453533
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Low-set ears, Microretrognathia, Long philtrum, Short finger, Narrow mouth, Sensorineural hearing... ORPHA:459070
Ane Syndrome
Hyperpigmented nevi, Alopecia, Hyperpigmentation of the skin ORPHA:157954
Dysosteosclerosis
Optic atrophy, Craniofacial hyperostosis, Delayed eruption of teeth, Hearing impairment, Abnormal... ORPHA:1782
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia OMIM:615966
Gomez-Lopez-Hernandez Syndrome
Alopecia OMIM:601853
Teebi-Shaltout Syndrome
Low-set ears, Hypoplastic helices, High, narrow palate, Prominent palatine ridges, Scaphocephaly,... OMIM:272950
Mosaic Trisomy 8
Hearing impairment, Camptodactyly of finger, Frontal bossing, Micrognathia, Abnormal antihelix mo... ORPHA:96061
Thrombocytopenia-Absent Radius Syndrome
Hip dislocation, Low-set, posteriorly rotated ears, Fibular aplasia, Micrognathia, Aplasia/hypopl... ORPHA:3320
Cenani-Lenz Syndactyly Syndrome
Micrognathia, Malar flattening, Hypodontia, Radioulnar synostosis, Enamel hypoplasia, Hypoplasia ... OMIM:212780
Beemer-Ertbruggen Syndrome
Low-set, posteriorly rotated ears, Micrognathia, Deep philtrum ORPHA:1237
Sifrim-Hitz-Weiss Syndrome
Low-set ears, Cupped ear, Hearing impairment, Tetralogy of Fallot, Ventricular septal defect, Coa... OMIM:617159
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Abnormal facial shape, Short distal phalanx of the 5th finger, Wide mouth, Short middle phalanx o... OMIM:113477
Lethal Congenital Contracture Syndrome 10
Low-set ears, Stiff neck, Micrognathia, Ventricular septal defect, Cardiomegaly, Short neck, Over... OMIM:617022
King-Denborough Syndrome
Low-set ears, Webbed neck, Short neck, Ventricular septal defect OMIM:619542
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Low-set ears, Holoprosencephaly, Anterior encephalocele, Ventricular septal defect OMIM:601357
Melnick-Needles Syndrome
Tooth malposition, Hypoplastic scapulae, Short distal phalanx of finger, Delayed eruption of teet... OMIM:309350
Takenouchi-Kosaki Syndrome
Low-set ears, Webbed neck, Optic atrophy, Dental malocclusion, Downturned corners of mouth, Long ... OMIM:616737
Barber-Say Syndrome
Atresia of the external auditory canal, Delayed eruption of teeth, Hearing impairment, Wide mouth... ORPHA:1231
Otopalatodigital Syndrome, Type Ii
Low-set ears, Rudimentary fibula, Micrognathia, Narrow mouth, Short neck, Short hallux, Short met... OMIM:304120
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Sparse eyebrow, Sparse eyelashes OMIM:610768
Costello Syndrome
Abnormal hair morphology, Abnormal fingernail morphology, Generalized hyperpigmentation, Hypoplas... ORPHA:3071
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
High, narrow palate, Webbed neck, Bifid uvula, Dental crowding, Thick lower lip vermilion, Thicke... OMIM:309583
Neu-Laxova Syndrome
Lissencephaly, Bifid uvula, Abnormal cortical gyration, Retrognathia, Micromelia, Polymicrogyria,... ORPHA:2671
Ctcf-Related Neurodevelopmental Disorder
Macrodontia of permanent maxillary central incisor, Abnormality of the dentition, Cupped ear, Mid... ORPHA:363611
Orofaciodigital Syndrome Type 4
Low-set ears, Abnormality of the outer ear, Aplasia/Hypoplasia of the tibia, Abnormal joint morph... ORPHA:2753
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... OMIM:610532
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Menke-Hennekam Syndrome 2
Flat face, Square face, Hearing impairment, Agenesis of permanent teeth, Micrognathia, Thin upper... OMIM:618333
Immunodeficiency, Common Variable, 10
Alopecia totalis, Trachyonychia OMIM:615577
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Polymicrogyria, Pterygium, Micrognathia, Cystic hygroma, Cleft palate OMIM:225790
Severe Intellectual Disability And Progressive Spastic Paraplegia
Genu recurvatum, Everted upper lip vermilion, Acetabular dysplasia, Coarse facial features, High ... ORPHA:280763
Cat Eye Syndrome
Low-set ears, Hypoplastic left heart, Total anomalous pulmonary venous return, Hearing impairment... OMIM:115470
Epidermolysis Bullosa, Junctional 1B, Severe
Pyloric stenosis OMIM:226700
Genitopalatocardiac Syndrome
Low-set ears, Downturned corners of mouth, Micrognathia, Non-midline cleft of the upper lip, Clef... ORPHA:2075
Galloway-Mowat Syndrome 9
Coarse hair OMIM:619603
Spastic Paraplegia 47, Autosomal Recessive
Genu recurvatum, Acetabular dysplasia, Coarse facial features, High palate, Short philtrum, Wide ... OMIM:614066
Intellectual Disability, Buenos-Aires Type
Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair ORPHA:3079
Au-Kline Syndrome
Bifid uvula, Plagiocephaly, Dental malocclusion, Downturned corners of mouth, Retrognathia, Open ... OMIM:616580
Orofaciodigital Syndrome Type 10
Flat face, Retrognathia, Long philtrum, Short tibia, Short toe, Short 4th finger, Fibular aplasia... ORPHA:2756
Codas Syndrome
Crumpled ear, Delayed eruption of teeth, Abnormal dental enamel morphology, Ventricular septal de... ORPHA:1458
Proximal 16P11.2 Microdeletion Syndrome
Midface retrusion, Conductive hearing impairment, Micrognathia, Sensorineural hearing impairment,... ORPHA:261197
Lacrimoauriculodentodigital Syndrome 3
Carious teeth, Cupped ear, Hearing impairment, Xerostomia, Widely spaced teeth, Short thumb, Enam... OMIM:620193
Spondyloepiphyseal Dysplasia Congenita
Cervical myelopathy, Bifid uvula, Flat face, Hypoplasia of the odontoid process, Hearing impairme... OMIM:183900
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype... OMIM:603909
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
High, narrow palate, Downturned corners of mouth, Umbilical hernia, Preauricular pit, Tetraamelia... OMIM:273390
Transketolase Deficiency
Hearing impairment, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, R... ORPHA:488618
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss
Sensorineural hearing impairment OMIM:267300
Tarp Syndrome
Optic atrophy, Prominent antihelix, Hearing impairment, Tongue nodules, Hypoplasia of proximal ra... ORPHA:2886
Nephrotic Syndrome, Type 11
Cleft lip, Micrognathia, Smooth philtrum, Abnormal facial shape, High palate, Cleft palate OMIM:616730
Dyskeratosis Congenita, Autosomal Dominant 1
Alopecia, Premature graying of hair, Ridged nail, Nail dystrophy, Reticular hyperpigmentation, Sp... OMIM:127550
Familial Osteodysplasia, Anderson Type
Tooth malposition, Aplastic clavicle, Carious teeth, Failure of eruption of permanent teeth, Elbo... ORPHA:2769
Chromosome 17Q12 Duplication Syndrome
Micrognathia, Cleft soft palate, Smooth philtrum, Esophageal atresia, Triangular face OMIM:614526
Blomstrand Lethal Chondrodysplasia
Low-set ears, Aplastic clavicle, Rhizomelia, Synostosis of joints, Natal tooth, Long philtrum, Di... ORPHA:50945
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Impaired ADP-induced platelet aggregation, Prolonged bleeding time, Impaired epinephri... OMIM:615888
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect ORPHA:3369
Short-Rib Thoracic Dysplasia 12
Low-set ears, Flat face, Hypoplastic scapulae, Natal tooth, Short toe, Short finger, Hamartoma of... OMIM:269860
Omenn Syndrome
Alopecia, Aplasia/Hypoplasia of the eyebrow ORPHA:39041
Developmental And Epileptic Encephalopathy 6B
Narrow mouth OMIM:619317
Klippel-Feil Syndrome 1, Autosomal Dominant
Webbed neck, Conductive hearing impairment, Hearing impairment, Congenital muscular torticollis, ... OMIM:118100
Warburg Micro Syndrome 4
Optic atrophy, Decreased motor nerve conduction velocity, Long philtrum, Narrow mouth, Brachyceph... OMIM:615663
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Prominent antihelix, Hearing impairment, Square face, Wide mouth, Branchial anomaly, Thin upper l... ORPHA:466950
Aymé-Gripp Syndrome
Low-set ears, Flat face, Plagiocephaly, Long philtrum, Delayed cranial suture closure, Stenosis o... ORPHA:1272
Cornelia De Lange Syndrome 1
Low-set ears, Micrognathia, Sensorineural hearing impairment, Low posterior hairline, Short neck,... OMIM:122470
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Long philtrum, Umbilical hernia, Frontal bossing, Malar flattening, Brachycephaly, Coarse facial ... ORPHA:1292
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Tetralogy of Fallot, Ventricular septal defect ORPHA:3306
X-Linked Agammaglobulinemia
Alopecia, Hypopigmented skin patches ORPHA:47
Gm1-Gangliosidosis, Type Ii
Optic atrophy, Flat face, Gingival overgrowth, Narrow mouth, Protruding tongue, Hypoplastic verte... OMIM:230600
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Low-set ears, Everted upper lip vermilion, Hearing impairment, Widely spaced teeth, Full cheeks, ... OMIM:619056
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect OMIM:253300
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Low-set ears, Hearing impairment, Retrognathia, Aplasia/Hypoplasia of the external ear, Ventricul... ORPHA:505237
Timothy Syndrome
Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car... OMIM:601005
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Midface retrusion, Micrognathia, Malar flattening, Sensorineural hearing impairment, High palate,... OMIM:609944
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Alopecia, Small nail, Absent eyelashes, Absent eyebrow, Cafe-au-lait spot ORPHA:166035
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Spinal dysraphism, Mitral stenosis, Sensorineural ... OMIM:617660
Intellectual Developmental Disorder, Autosomal Dominant 58
Plagiocephaly, Dental crowding, Wide mouth, Protruding tongue, Submucous cleft hard palate, Facia... OMIM:618106
Crane-Heise Syndrome
Aplastic clavicle, Hypoplastic scapulae, Short distal phalanx of finger, Low-set, posteriorly rot... ORPHA:1512
Neurodevelopmental Disorder With Spasticity And Poor Growth
Low-set ears, High, narrow palate, Midface retrusion, Flat occiput, Large earlobe, Narrow mouth, ... OMIM:618076
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
High anterior hairline, Horizontal eyebrow, Sparse lateral eyebrow, Long eyelashes, Thick eyebrow... OMIM:619950
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Abnormality of the ankle, Oligodontia of primary teeth, Bilateral conductive hearing impairment, ... ORPHA:2010
Dyskeratosis Congenita, Digenic
Alopecia, Nail dystrophy, Abnormality of skin pigmentation, Sparse eyelashes OMIM:620040
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Low-set ears, Gingival bleeding, Short toe, Umbilical hernia, Recurrent mandibular subluxations, ... OMIM:225410
Essential Thrombocythemia
Acute leukemia, Prolonged bleeding time, Transient ischemic attack, Leukocytosis, Splenomegaly, A... ORPHA:3318
Orofaciodigital Syndrome V
Low-set ears, Bifid uvula, Hearing impairment, Optic disc coloboma, Hamartoma of tongue, Ankylogl... OMIM:174300
Long-Olsen-Distelmaier Syndrome
Low-set ears, Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Ve... OMIM:620609
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Low-set ears, Cleft lip, Natal tooth, Short tibia, Hamartoma of tongue, Micrognathia, Neonatal de... OMIM:617925
Acrodermatitis Enteropathica
Alopecia, Ridged fingernail, Abnormal eyebrow morphology, Ridged nail, Abnormality of the nail, P... ORPHA:37
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Micrognathia, Atrial septal defect, Ventricular septal defect OMIM:608227
Chronic Beryllium Disease
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells ORPHA:133
Perrault Syndrome 2
Sensorineural hearing impairment OMIM:614926
W Syndrome
Upper lip pit, Broad uvula, Elbow dislocation, Submucous cleft hard palate, Cubitus valgus, Hypop... ORPHA:2804
Immunodeficiency 7
Patchy alopecia, Vitiligo OMIM:615387
Cole-Carpenter Syndrome
Midface retrusion, Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia, Tu... ORPHA:2050
Kleefstra Syndrome
Delayed eruption of teeth, Hearing impairment, Tetralogy of Fallot, Malar flattening, Ventricular... ORPHA:261494
Thakker-Donnai Syndrome
Webbed neck, Tetralogy of Fallot, Ventricular septal defect, Short neck, Transposition of the gre... ORPHA:1780
Aregenerative Anemia
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Atelosteogenesis Type I
Low-set ears, Rhizomelia, Midface retrusion, Joint dislocation, Micrognathia, Limb undergrowth, M... ORPHA:1190
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Coarse hair, Thick eyebrow ORPHA:585
Beckwith-Wiedemann Syndrome
Mandibular prognathia, Otosclerosis, Midface retrusion, Hearing impairment, Abnormal earlobe morp... ORPHA:116
Kinsship Syndrome
Low-set ears, Mandibular prognathia, Downturned corners of mouth, Thick lower lip vermilion, Wide... OMIM:619297
Genitopatellar Syndrome
Low-set ears, Delayed eruption of teeth, Long philtrum, Hearing impairment, Micrognathia, Patella... ORPHA:85201
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Low-set, posteriorly rotated ears, Hypoplastic left heart, Ventricular septal defect ORPHA:2772
Ssr4-Cdg
Joint dislocation, Widely spaced teeth, Abnormality of upper lip vermillion, Abnormal facial shap... ORPHA:370927
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Lymphopenia, Absent peripheral lymph nodes in presence of infection,... OMIM:600802
Fibrous Dysplasia Of Bone
Abnormal facial skeleton morphology, Hearing impairment, Abnormal mandible morphology, Abnormalit... ORPHA:249
Diaphragmatic Hernia 4, With Cardiovascular Defects
Low-set ears, Webbed neck, Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Aorti... OMIM:620025
2Q23.1 Microduplication Syndrome
Abnormality of the outer ear, Abnormality of the dentition, Dental crowding, Midface retrusion, T... ORPHA:313947
Feingold Syndrome
Duodenal atresia, Micrognathia, Sensorineural hearing impairment, Orofacial cleft, Esophageal atr... ORPHA:1305
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Reticulated skin ... OMIM:613990
Restrictive Dermopathy
Low-set ears, Webbed neck, Microcolon, Natal tooth, Camptodactyly of finger, Small placenta, Temp... ORPHA:1662
Otofaciocervical Syndrome 1
Mixed hearing impairment, Cupped ear, Hypoplasia of the cochlea, Conductive hearing impairment OMIM:166780
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Broad jaw, Umbilical hernia, Micrognathia, Exaggerated cupid's bow, Macroglossia, High palate, Wi... OMIM:614501
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Retrognathia, Micrognathia, Ventricular septal defect, Atrial septal defect, Overfolded helix, Pa... OMIM:617061
Nizon-Isidor Syndrome
High, narrow palate, Downturned corners of mouth, Open mouth, Narrow mouth, Thin upper lip vermil... OMIM:618872
Larsen Syndrome
Short distal phalanx of finger, Flat face, Conductive hearing impairment, Accessory carpal bones,... ORPHA:503
Revesz Syndrome
Ridged fingernail, Fine hair, Nail dystrophy, Fine, reticulate skin pigmentation, Sparse hair, Na... OMIM:268130
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Lenz-Majewski Hyperostotic Dwarfism
High, narrow palate, Bifid uvula, Mandibular prognathia, Aplastic clavicle, Cranial hyperostosis,... ORPHA:2658
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Low-set ears, Mandibular prognathia, Midface retrusion, Widely-spaced maxillary central incisors,... OMIM:301040
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom... OMIM:602450
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Ménétrier Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Abnormal gastric mucosa mor... ORPHA:2494
Cerebrofaciothoracic Dysplasia
Coarse hair, Thick eyebrow, Low posterior hairline, Abnormal hair pattern, Synophrys ORPHA:1394
Kapur-Toriello Syndrome
Low-set ears, Conductive hearing impairment, Ventricular septal defect, Low posterior hairline, S... OMIM:244300
Hutchinson-Gilford Progeria Syndrome
Prominent ear helix, Ankyloglossia, Craniofacial disproportion, Micrognathia, Short lingual frenu... ORPHA:740
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Low-set ears, Downturned corners of mouth, Long philtrum, Thick lower lip vermilion, Short ear, M... OMIM:614756
Diamond-Blackfan Anemia 7
Secundum atrial septal defect, Atresia of the external auditory canal, Hearing impairment, Recurr... OMIM:612562
Pseudotrisomy 13 Syndrome
Low-set ears, Encephalocele, Complete atrioventricular canal defect, Ventricular septal defect, C... OMIM:264480
Gapo Syndrome
High, narrow palate, Optic atrophy, Plagiocephaly, Eruption failure, Long philtrum, Umbilical her... OMIM:230740
Trisomy 8P
Short fifth metatarsal, Bifid uvula, Preauricular skin tag, Malrotation of small bowel, Conductiv... ORPHA:264450
Usher Syndrome, Type Ig
Abnormal vestibular function, Sensorineural hearing impairment OMIM:606943
X-Linked Intellectual Disability, Pai Type
Protruding ear, Narrow mouth ORPHA:85322
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Protruding ear, Micrognathia, Ventricular septal defect ORPHA:2256
Lethal Acantholytic Erosive Disorder
Abnormal helix morphology, Natal tooth, Abnormal pinna morphology, Cleft palate ORPHA:158687
Multiple Epiphyseal Dysplasia Type 4
Low-set ears, Hypoplastic cervical vertebrae, Abnormal earlobe morphology, Premature osteoarthrit... ORPHA:93307
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Optic atrophy, Widely spaced teeth, Low-set, posteriorly rotated ears, Narrow mouth, Joint contra... ORPHA:324540
Sotos Syndrome
Low-set ears, Mandibular prognathia, Conductive hearing impairment, Muscular ventricular septal d... OMIM:117550
Toriello-Carey Syndrome
Low-set ears, Hearing impairment, Cardiomyopathy, Tetralogy of Fallot, Anotia, Micrognathia, Agan... ORPHA:3338
Wiedemann-Rautenstrauch Syndrome
Low-set ears, Natal tooth, Long neck, Micrognathia, Narrow mouth, Short neck, Absent earlobe, Gen... OMIM:264090
Meier-Gorlin Syndrome 6
Microretrognathia, Conductive hearing impairment, Midface retrusion, Umbilical hernia, Frontal bo... OMIM:616835
Frontonasal Dysplasia 2
Sparse eyebrow, Fine hair, Alopecia totalis, Sparse eyelashes, Hypohidrosis, Sparse hair OMIM:613451
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue, Facial palsy, Oculomotor nerve palsy ORPHA:2743
Developmental And Epileptic Encephalopathy 87
Midface retrusion, Widely spaced teeth, High palate, Wide mouth, U-Shaped upper lip vermilion OMIM:618916
Primary Pulmonary Hypoplasia
Low-set ears, Patellar hypoplasia, Micrognathia, Cleft palate ORPHA:2257
Pfeiffer Syndrome Type 2
Low-set ears, Small hand, Atresia of the external auditory canal, Intestinal malrotation, Malar f... ORPHA:93259
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Narrow mouth, Fibular hypoplasia, Hy... OMIM:612447
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Downturned corners of mouth, Anteriorly placed anus, Micrognathia, Redundant neck skin, Short nec... OMIM:217980
Meckel Syndrome 12
Low-set ears, Bifid uvula, Micrognathia, Antecubital pterygium OMIM:616258
Holt-Oram Syndrome
Hypoplastic left heart, Atrioventricular block, Paroxysmal atrial fibrillation, Atrioventricular ... ORPHA:392
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Low-set ears, Carious teeth, Natal tooth, Micrognathia, Sensorineural hear... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Low-set ears, Carious teeth, Natal tooth, Micrognathia, Sensorineural hear... ORPHA:353277
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Low-set ears, Hypoplastic helices, Absent pulmonary artery, Tetralogy of Fallot, Ventricular sept... OMIM:600460
Developmental And Epileptic Encephalopathy 89
Low-set ears, Flat face, Microretrognathia, Long philtrum, Asymmetry of the ears, Neonatal death,... OMIM:619124
Ruvalcaba Syndrome
Small hand, Dental crowding, Micromelia, Synostosis of carpal bones, Narrow mouth, Thin vermilion... ORPHA:3121
Autosomal Dominant Robinow Syndrome
Low-set ears, Hearing impairment, Elbow dislocation, Open bite, Micrognathia, Anodontia, Short ne... ORPHA:3107
Oculocerebrocutaneous Syndrome
Abnormal fingernail morphology, Alopecia, Hypopigmented skin patches ORPHA:1647
Orofaciodigital Syndrome Type 14
Webbed neck, Microretrognathia, Lobulated tongue, Low-set, posteriorly rotated ears, Hamartoma of... ORPHA:434179
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Alopecia universalis, Alopecia, Pigmentary retinopathy, Vitiligo, Nail dystrophy OMIM:240300
Dentici-Novelli Neurodevelopmental Syndrome
Hearing impairment, Widely spaced teeth, Thin upper lip vermilion, Wide mouth, Macrotia, Simplifi... OMIM:619877
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Plagiocephaly, Midface retrusion, Short thumb, Preauricular pit, Micrognathia, Turricephaly, Shor... OMIM:620224
Halperin-Birk Syndrome
Optic atrophy, Hearing impairment, Umbilical hernia, Micrognathia, Thick vermilion border, High p... OMIM:618651
Donnai-Barrow Syndrome
Sensorineural hearing impairment, Posteriorly rotated ears, Ventricular septal defect, Umbilical ... ORPHA:2143
Athrombia, Essential
Impaired platelet adhesion, Prolonged bleeding time, Impaired platelet aggregation OMIM:209050
Pitt-Hopkins Syndrome
Tooth malposition, Abnormal helix morphology, Small hand, Failure of eruption of permanent teeth,... ORPHA:2896
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
2Q31.1 Microdeletion Syndrome
Low-set ears, Narrow face, Downturned corners of mouth, Long philtrum, Optic disc coloboma, Campt... ORPHA:251014
Costello Syndrome
Curly hair, Concave nail, Hyperpigmentation of the skin, Thin nail, Deep-set nails, Sparse hair, ... OMIM:218040
Seckel Syndrome
Narrow face, Abnormal earlobe morphology, Tooth agenesis, Abnormal dental enamel morphology, Micr... ORPHA:808
Bainbridge-Ropers Syndrome
Low-set ears, Dental crowding, Retrognathia, Intestinal malrotation, Trigonocephaly, Scaphocephal... OMIM:615485
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Polymicrogyria, Narrow mouth, Lissencephaly, Optic nerve hypoplasia OMIM:614833
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Alopecia, Sparse eyebrow, Small nail, Hypoplastic toenails, Sparse eyelashes, Absent eyelashes, A... ORPHA:544488
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Misalignment of incisors, 11 pairs of ribs, Bicoronal synostosis, Oligodontia, H... OMIM:619184
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
White hair, Fine hair ORPHA:935
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia OMIM:616270
Ververi-Brady Syndrome
Low-set ears, Cupped ear, Macrotia, Transposition of the great arteries OMIM:617982
Schneckenbecken Dysplasia
Hypoplastic scapulae, Advanced ossification of carpal bones, Midface retrusion, Umbilical hernia,... OMIM:269250
Galloway-Mowat Syndrome 1
Low-set ears, Optic atrophy, Joint contracture of the hand, Midface retrusion, Micrognathia, Hiat... OMIM:251300
Trichorhinophalangeal Syndrome, Type I
Sparse lateral eyebrow, Fine hair, Thin eyebrow, Leukonychia, Concave nail, Slow-growing hair, Th... OMIM:190350
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Low-set ears, Coronal craniosynostosis, Retrognathia, Brachyturricephaly, Contracture of the dist... ORPHA:83617
Spondylocarpotarsal Synostosis Syndrome
Preauricular skin tag, Block vertebrae, Hypoplasia of the odontoid process, Failure of eruption o... OMIM:272460
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormality of hair texture ORPHA:88618
Burning Mouth Syndrome
Abnormal fifth cranial nerve morphology, Strawberry tongue, Tongue pain, Xerostomia, Smooth tongu... ORPHA:353253
Aicardi Syndrome
Optic atrophy, Block vertebrae, Cleft upper lip, Optic disc coloboma, Polymicrogyria, Prominence ... OMIM:304050
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Low-set ears, Bifid uvula, Plagiocephaly, Cupped ear, Frontal bossing, Narrow mouth, Exaggerated ... OMIM:619480
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Low-set ears, Downturned corners of mouth, Thin upper lip vermilion, Short philtrum, Lobulated to... OMIM:613443
Cornelia De Lange Syndrome 6
Low-set ears, Macrodontia of permanent maxillary central incisor, Cleft lip, Short 1st metacarpal... OMIM:620568
Mandibuloacral Dysplasia Progeroid Syndrome
Long philtrum, Delayed cranial suture closure, Frontal bossing, Micrognathia, Narrow mouth, Genu ... OMIM:619127
Cardiofacioneurodevelopmental Syndrome
Protruding ear, Cleft lip, Micrognathia, Cleft palate OMIM:619123
Cartilage-Hair Hypoplasia
Sparse eyebrow, Fair hair, Fine hair, Sparse eyelashes, Sparse facial hair, Sparse hair OMIM:250250
Intellectual Developmental Disorder, X-Linked, Syndromic 34
High, narrow palate, Dental crowding, Synostosis of the proximal phalanx of the thumb with the 1s... OMIM:300967
Chromosome 16P13.3 Duplication Syndrome
Low-set ears, Micrognathia, Short neck, Hip dislocation, Macrotia, Long face, Midface retrusion, ... OMIM:613458
Seckel Syndrome 9
Pulmonary artery hypoplasia, Micrognathia, Ventricular septal defect, Protruding ear, Atrial sept... OMIM:616777
Progressive Non-Infectious Anterior Vertebral Fusion
Flat face, Micrognathia, Brachycephaly, Round face, Abnormal facial shape, Thin vermilion border,... ORPHA:2062
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... ORPHA:99095
Frontometaphyseal Dysplasia
Joint contracture of the hand, Short distal phalanx of the thumb, Hearing impairment, Micrognathi... ORPHA:1826
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Low-set ears, Ventricular hypertrophy, Aortic root aneurysm, Retrognathia, Umbilical hernia, Recu... OMIM:620654
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Low-set ears, Hypoplastic scapulae, Abnormal earlobe morphology, Narrow mouth, Abnormal antihelix... ORPHA:95699
Fraser Syndrome 1
Low-set ears, Atresia of the external auditory canal, Aplasia/Hypoplasia of the sternum, Abnormal... OMIM:219000
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Cole-Carpenter Syndrome 1
Dentinogenesis imperfecta, Coronal craniosynostosis, Midface retrusion, Orbital craniosynostosis,... OMIM:112240
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Cupped ear, Anteriorly placed anus, Micrognathia, Hearing abnormality, Aplasia/Hypoplasia of the ... ORPHA:1352
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Short philtrum, Natal tooth, Cleft palate OMIM:617337
Severe X-Linked Intellectual Disability, Gustavson Type
Optic atrophy, Micrognathia, Profound hearing impairment, Ventricular septal defect, Abnormal pin... ORPHA:3078
Short Syndrome
Alopecia, Sparse hair ORPHA:3163
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Aica-Ribosiduria Due To Atic Deficiency
Low-set ears, Optic atrophy, Frontal bossing, Thin upper lip vermilion, Brachycephaly, Wide mouth... OMIM:608688
Congenital Myopathy 13
Low-set ears, Conductive hearing impairment, Downturned corners of mouth, Midface retrusion, Micr... OMIM:255995
Jansen-De Vries Syndrome
Low-set ears, Bicuspid aortic valve, Posteriorly rotated ears, Ventricular septal defect OMIM:617450
Holocarboxylase Synthetase Deficiency
Alopecia OMIM:253270
Noonan Syndrome 12
Tetralogy of Fallot, Supravalvular aortic stenosis, Ventricular septal defect OMIM:618624
Mmep Syndrome
Mandibular prognathia, Ventricular septal defect ORPHA:3434
Macrocephaly/Autism Syndrome
Coarse hair OMIM:605309
Phocomelia, Schinzel Type
High, narrow palate, Finger aplasia, Micromelia, Aplasia/Hypoplasia of the sacrum, Foot oligodact... ORPHA:2879
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
High palate, Pyloric stenosis ORPHA:314575
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Low-set ears, Retrognathia, Patent foramen ovale, Ventricular septal defect, Pulmonary artery atr... OMIM:620113
Intellectual Developmental Disorder, X-Linked 103
Coarse facial features, Wide mouth, Short palm, Polymicrogyria OMIM:300982
Intellectual Developmental Disorder, Autosomal Dominant 68
Retrognathia, Frontal bossing, Joint contracture of the 5th finger, Posteriorly rotated ears, Ful... OMIM:619934
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Coarctation of aorta, Ventricular septal defect OMIM:620210
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tongue atrophy, Knee flexion contracture ORPHA:496689
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Dilated cardiomyopathy, Recurrent otitis media, Micrognathia, Ventr... OMIM:614921
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Gingivitis, Abnormal facial shape, Abnormality of primary teeth, Narrow mouth ORPHA:75496
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... ORPHA:276
Leukocyte Adhesion Deficiency Type Ii
Conductive hearing impairment, Umbilical hernia, Recurrent otitis media, Gingival overgrowth, Pro... ORPHA:99843
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia ORPHA:93160
Native American Myopathy
Bifid uvula, Conductive hearing impairment, Downturned corners of mouth, Micrognathia, Submucous ... ORPHA:168572
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Short distal phalanx of finger, Wide mouth, Diastema OMIM:618470
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Congenital shortened small intestine, Intestinal pseudo-obstruction, Pylo... OMIM:300048
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia OMIM:304790
Desmosterolosis
Low-set ears, Rhizomelia, Joint contracture of the hand, Cupped ear, Frontal bossing, Micrognathi... OMIM:602398
Deafness-Craniofacial Syndrome
Abnormality of the dentition, Short lingual frenulum, Abnormal palate morphology, Sensorineural h... ORPHA:3241
Slc35A1-Cdg
Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Neutropenia, Thrombocytopenia,... ORPHA:238459
Stuve-Wiedemann Syndrome 1
Low-set ears, Carious teeth, Midface retrusion, Smooth tongue, Pursed lips, Short tibia, Talipes ... OMIM:601559
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Recurrent otitis media, Dextrotransposition of the great arteries, Ventricular septal defect OMIM:619995
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Nail dysplasia, Sparse hair, Fine hair, Aplasia/Hypoplasia of the eyebrow OMIM:614091
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Low-set ears, Conductive hearing impairment, Mitral regurgitation, Sensorin... ORPHA:254346
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Low-set ears, Short distal phalanx of finger, Anal stenosis, Cupped ear, Long philtrum, Large fle... OMIM:614080
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Gastrointestinal hemorrhage, Abnormal cerebral vascular morphology, Conges... ORPHA:363705
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hypopigmentation of the skin, Brittle hair OMIM:236200
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Widely spaced teeth, Wide mouth, Limitation of movement at ankles, Protruding tongue, Mandibular ... ORPHA:98794
Wiedemann-Rautenstrauch Syndrome
Low-set ears, Natal tooth, Recurrent otitis media, Narrow mouth, Synovitis, Absent earlobe, Downt... ORPHA:3455
Periventricular Nodular Heterotopia
Gastroesophageal reflux, Pyloric stenosis ORPHA:98892
Meier-Gorlin Syndrome 7
Low-set ears, Anal stenosis, Copper beaten skull, Hearing impairment, Anteriorly placed anus, Duo... OMIM:617063
Alagille Syndrome
Peripheral pulmonary artery stenosis, Micrognathia, Ventricular septal defect, Protruding ear, Te... ORPHA:52
Myh9-Related Disease
Giant platelets, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Myocardial infarction... ORPHA:182050
Hartnup Disorder
Glossitis OMIM:234500
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Tongue atrophy ORPHA:216873
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Low-set ears, Recurrent otitis media, Cleft soft palate, Micrognathia, Narrow mouth, Hip contract... OMIM:619503
Mandibuloacral Dysplasia With Type A Lipodystrophy
Alopecia, Breast aplasia, Abnormal eyebrow morphology, Absent eyelashes, Hyperpigmentation of the... ORPHA:90153
Developmental Delay With Or Without Dysmorphic Facies And Autism
Low-set ears, Cleft lip, Hearing impairment, Optic disc coloboma, Umbilical hernia, Polymicrogyri... OMIM:618454
Schimmelpenning-Feuerstein-Mims Syndrome
Alopecia, Hypopigmentation of the skin OMIM:163200
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Atresia of the external auditory canal, Umbilical hernia, Low-set, posteriorly rotated ears, Vent... ORPHA:1770
Chilton-Okur-Chung Neurodevelopmental Syndrome
Low-set ears, Posterior plagiocephaly, Recurrent otitis media, Ankyloglossia, Micrognathia, Senso... OMIM:619841
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Alopecia ORPHA:412057
Johanson-Blizzard Syndrome
Abnormal hair pattern, Alopecia ORPHA:2315
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Small hand, Microretrognathia, Bilateral conductive hearing impairment, Hearing impairment, Downt... ORPHA:488642
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic valve stenosis, Aortic regurgitation, Hearing impairment, Tetralogy of Fallot, Conotruncal... ORPHA:96147
Distal 16P11.2 Microdeletion Syndrome
Aganglionic megacolon, Narrow mouth, Oval face ORPHA:261222
Mosaic Trisomy 9
Low-set ears, Webbed neck, Abnormal heart valve morphology, Endocardial fibroelastosis, Micrognat... ORPHA:99776
Incontinentia Pigmenti
Alopecia, Ridged fingernail, Irregular hyperpigmentation, Dystrophic toenail, Hypopigmented skin ... ORPHA:464
Gray Platelet Syndrome
Epistaxis, Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Spl... OMIM:139090
Arterial Tortuosity Syndrome
Aortic valve stenosis, Aortic regurgitation, Ventricular hypertrophy, Aortic root aneurysm, Umbil... OMIM:208050
Schuurs-Hoeijmakers Syndrome
Low-set ears, Downturned corners of mouth, Diastema, Volvulus, Thin upper lip vermilion, Smooth p... OMIM:615009
Rothmund-Thomson Syndrome, Type 2
Congenital hip dislocation, Mandibular prognathia, Small hand, Prominent antihelix, Delayed erupt... OMIM:268400
Pallister-Hall Syndrome
Natal tooth, Atresia of the external auditory canal, Ventricular septal defect, Neonatal death, P... OMIM:146510
Bosma Arhinia Microphthalmia Syndrome
Absent tragus, Cleft lip, Conductive hearing impairment, Atresia of the external auditory canal, ... OMIM:603457
Okur-Chung Neurodevelopmental Syndrome
Low-set ears, Cupped ear, Umbilical hernia, Micrognathia, Protruding tongue, Thin upper lip vermi... OMIM:617062
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dry hair, Mongolian blue spot, Low anterior hairline OMIM:618569
Biliary, Renal, Neurologic, And Skeletal Syndrome
Low-set ears, Unbalanced atrioventricular canal defect, Hearing impairment, Ventricular septal de... OMIM:619534
White-Kernohan Syndrome
Low-set ears, Midface retrusion, Retrognathia, Anteriorly placed anus, Recurrent otitis media, Te... OMIM:619426
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis OMIM:614876
Adams-Oliver Syndrome
Alopecia, Hypoplastic fingernail, Aplastic/hypoplastic toenail, Sparse hair, Absent fingernail ORPHA:974
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Low-set ears, Abnormal lip morphology, Aplasia/Hypoplasia of the tongue, Missing ribs, Abnormal a... ORPHA:2759
Noonan Syndrome 3
Low-set ears, Webbed neck, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal... OMIM:609942
Frontofacionasal Dysplasia
Bifid uvula, Cranium bifidum occultum, Hypoplasia of the frontal bone, Midface retrusion, Cleft u... OMIM:229400
Right Atrial Isomerism
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Pulmonary artery atr... OMIM:208530
Indomethacin Embryofetopathy
Multicystic kidney dysplasia, Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Loeys-Dietz Syndrome 5
Bifid uvula, Midface retrusion, Retrognathia, Cleft soft palate, Tented upper lip vermilion, Broa... OMIM:615582
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-positive helper T cells, Autoim... ORPHA:572
Rabson-Mendenhall Syndrome
Abnormality of the dentition, Dental crowding, Furrowed tongue, Gingival overgrowth, Advanced eru... ORPHA:769
Smith-Mccort Dysplasia 1
Hypoplastic facial bones, Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic a... OMIM:607326
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Diffuse cerebral atrophy, Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hearing impairment, Ventricular septal defect, Hydrocephalus, Holoprosencephaly, Patent ductus ar... ORPHA:77298
Basel-Vanagaite-Smirin-Yosef Syndrome
Low-set ears, High, narrow palate, Retrognathia, Furrowed tongue, Contracture of the proximal int... ORPHA:464738
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor, Frontal bossing OMIM:300291
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Roifman Syndrome
Noncompaction cardiomyopathy, Recurrent otitis media, Eosinophilia, Ventricular septal defect OMIM:616651
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Bleeding Disorder, Platelet-Type, 17
Epistaxis, Gastrointestinal hemorrhage, Increased RBC distribution width, Absence of alpha granul... OMIM:187900
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Campomelic Dysplasia
Low-set ears, Small abnormally formed scapulae, Flat face, Hearing impairment, 11 pairs of ribs, ... ORPHA:140
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic root aneurysm, Abdominal aortic aneurysm, Bicuspid aortic valve, Carotid artery dilatation... ORPHA:91387
X Small Rings
Aortic root aneurysm, Mitral stenosis, Ventricular septal defect, Low posterior hairline, Protrud... ORPHA:96201
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Low-set ears, Optic atrophy, Optic nerve hypoplasia, Occipital encephalocele, Atresia of the exte... OMIM:236670
Ciliary Dyskinesia, Primary, 30
Recurrent otitis media, Situs inversus totalis, Chronic sinusitis, Ventricular septal defect, Dex... OMIM:616037
6Q Terminal Deletion Syndrome
High, narrow palate, Plagiocephaly, Polymicrogyria, Low-set, posteriorly rotated ears, Micrognath... ORPHA:75857
Dubowitz Syndrome
Abnormality of the dentition, Anal stenosis, Small hand, Narrow face, Delayed eruption of teeth, ... ORPHA:235
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Increased variability in muscle fiber diameter, Ankle flexion contracture, Elbow flexion contract... OMIM:619461
Tenorio Syndrome
Delayed cranial suture closure, Recurrent aphthous stomatitis, Wide mouth, Macroglossia, Mandibul... OMIM:616260
Microtia, Hearing Impairment, And Cleft Palate
Stenosis of the external auditory canal, Increased incisura length, Mixed hearing impairment, Ove... OMIM:612290
Aase-Smith Syndrome I
Hydrocephalus, Abnormal pinna morphology, Ventricular septal defect OMIM:147800
Delpire-Mcneill Syndrome
Bilateral sensorineural hearing impairment, Ventricular septal defect OMIM:619083
Gapo Syndrome
Alopecia, Sparse eyebrow, Hypopigmented skin patches, Sparse eyelashes, Early balding ORPHA:2067
Congenital Tracheal Stenosis
Hypoplastic left heart, Abnormal earlobe morphology, Anomalous origin of left pulmonary artery fr... ORPHA:141127
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect OMIM:617044
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Left atrial isomerism, Atrioventricular canal defect, Situs inversu... OMIM:605376
Hartsfield Syndrome
Low-set ears, Hypoplasia of the frontal bone, Cleft upper lip, Median cleft upper lip, Craniosyno... OMIM:615465
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Coarctation of aorta, Right aortic arch OMIM:140850
Aica-Ribosiduria
Low-set ears, Brachycephaly, Wide mouth, Thin upper lip vermilion ORPHA:250977
Duane Retraction Syndrome
Hearing impairment, Micrognathia, Sensorineural hearing impairment, Low posterior hairline, Aplas... ORPHA:233
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology, Decreased proportion of CD3... ORPHA:760
Microtia With Meatal Atresia And Conductive Deafness
Conductive hearing impairment, Anotia, Aplasia/Hypoplasia of the middle ear, Facial asymmetry, Wi... OMIM:251800
Tyshchenko Syndrome
Low-set ears, Ventricular septal defect, Atrial septal defect, Posteriorly rotated ears, Pulmonic... OMIM:615102
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Plummer-Vinson Syndrome
Narrow mouth, Intra-oral hyperpigmentation, Esophageal web, Glossitis, Cheilitis, Tongue atrophy ORPHA:54028
Koolen-De Vries Syndrome
Abnormality of hair texture, Hypopigmentation of hair ORPHA:96169
Faciocardiomelic Syndrome
Dental malocclusion, Long philtrum, Hyperplasia of the maxilla, Micrognathia, Wide mouth OMIM:612731
Immunodeficiency 40
T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia OMIM:616433
1P21.3 Microdeletion Syndrome
Long ear, Micrognathia, Wide mouth, Full cheeks ORPHA:293948
Lenz-Majewski Hyperostotic Dwarfism
Abnormality of the dentition, Microglossia, Anteriorly placed anus, Macrotia, Delayed cranial sut... OMIM:151050
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Hepatosplenomegaly, Decreased CD4:CD8 ratio... OMIM:606367
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Pyloric stenosis OMIM:617219
Mycophenolate Mofetil Embryopathy
Atresia of the external auditory canal, Hearing impairment, Anotia, Micrognathia, Ventricular sep... ORPHA:268249
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Microretrognathia, Tricuspid regurgitation, Increased nuchal translucency, Patent foramen ovale, ... OMIM:618870
Omenn Syndrome
Alopecia OMIM:603554
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Low-set ears, Gingival overgrowth, Protruding tongue, Brachycephaly, Gray matter heterotopia, Wid... OMIM:618797
15q26 overgrowth syndrome
Low-set ears, Long philtrum, Abnormal joint morphology, Camptodactyly of finger, Micrognathia, Se... DECIPHER:81
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Small hand, Optic nerve hypoplasia, Plagiocephaly, Hearing impairment, Micrognathia, Narrow mouth... OMIM:620455
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Ventricular hypertrophy, Second degree atrioventricular block, Ventricular septal defe... ORPHA:369929
Chromosome 15Q25 Deletion Syndrome
Low-set ears, Webbed neck, Coronary artery fistula, Ventricular septal defect, Short neck, Dextro... OMIM:614294
Macs Syndrome
Alopecia, Sparse hair, Sparse eyebrow OMIM:613075
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Retrognathia, Cleft soft palate, Cleft palate ORPHA:2736
Cranioectodermal Dysplasia 3
Short nail, Sparse hair, Fine hair, Broad nail OMIM:614099
Intellectual Developmental Disorder, Autosomal Recessive 71
Macrotia, Ventricular septal defect OMIM:618504
Larsen Syndrome
Flat face, Hip dislocation, Conductive hearing impairment, Hearing impairment, Cleft upper lip, M... OMIM:150250
Isolated Exencephaly
Low-set ears, Abnormal calvaria morphology, Hypoplasia of the frontal bone, Abnormal facial skele... ORPHA:563612
Van Esch-O'Driscoll Syndrome
Bifid uvula, Downturned corners of mouth, Retrognathia, Protruding ear, Tracheoesophageal fistula... OMIM:301030
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Argininosuccinic Aciduria
Trichorrhexis nodosa, Dry hair, Brittle hair OMIM:207900
Multiple Synostoses Syndrome 4
Tarsal synostosis, Otosclerosis OMIM:617898
Rere-Related Neurodevelopmental Syndrome
Optic atrophy, Hearing impairment, Low-set, posteriorly rotated ears, Abnormal heart morphology, ... ORPHA:494344
Lacrimoauriculodentodigital Syndrome 1
Carious teeth, Cupped ear, Hearing impairment, Xerostomia, Short thumb, Absent radius, Delayed er... OMIM:149730
Opitz Gbbb Syndrome
Low-set ears, Cleft lip, Natal tooth, Hearing impairment, Long philtrum, Umbilical hernia, Ankylo... ORPHA:2745
Kyphomelic Dysplasia
Low-set ears, Flat face, Micromelia, Cleft upper lip, Pterygium, Micrognathia, Short humerus, Fla... OMIM:211350
Cutis Laxa, Autosomal Recessive, Type Iiib
Sparse hair, Fine hair OMIM:614438
Encephalocraniocutaneous Lipomatosis
Alopecia, Linear hyperpigmentation OMIM:613001
14Q22Q23 Microdeletion Syndrome
Preauricular skin tag, Cupped ear, Atresia of the external auditory canal, Hearing impairment, Do... ORPHA:264200
Mogs-Cdg
Long eyelashes, Alopecia, Fair hair, Hirsutism ORPHA:79330
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Furrowed tongue, Micromelia, Camptodactyly of finger, Decreased nerve conduction velocity ORPHA:2928
Roberts-Sc Phocomelia Syndrome
Low-set ears, Hyperplasia of the maxilla, Micrognathia, Short neck, Absent radius, Absent earlobe... OMIM:268300
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Low-set ears, Absent middle phalanx of 5th finger, Micrognathia, Short neck, High palate, Accesso... OMIM:266920
Autosomal Dominant Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... ORPHA:169189
Linear Nevus Sebaceus Syndrome
Alopecia, Irregular hyperpigmentation, Melanocytic nevus ORPHA:2612
Distal Deletion 12Q
Low-set ears, Bilateral conductive hearing impairment, Prominent ear helix, Micrognathia, Short n... ORPHA:96149
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Low-set ears, Micrognathia, Open mouth, Protruding tongue, Genu valgum, Sensorineural hearing imp... OMIM:309580
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Congenital Disorder Of Glycosylation, Type Il
Low-set ears, Long philtrum, Frontal bossing, Villous atrophy, Short neck, Brachycephaly, Abnorma... OMIM:608776
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Yunis-Varon Syndrome
Low-set ears, Hearing impairment, Aplasia of the distal phalanx of the hallux, Broad secondary al... ORPHA:3472
Pelger-Huet Anomaly
Recurrent otitis media, Ventricular septal defect, Umbilical hernia OMIM:169400
Roberts Syndrome
Synostosis of carpal bones, Cleft upper lip, Micrognathia, Malar flattening, Patellar aplasia, Kn... ORPHA:3103
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... ORPHA:3226
Cutis Laxa, Autosomal Recessive, Type Ib
Low-set ears, Flat face, Retrognathia, Micrognathia, Prominence of the premaxilla, Neonatal death... OMIM:614437
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Sparse pubic hair, Alopecia, Sparse eyebrow, Abnormal eyebrow morphology, Breast hypoplasia, Alop... ORPHA:2232
Solar Urticaria
Vertigo, Abnormal lip morphology, Abnormal tongue morphology ORPHA:97230
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia OMIM:210210
Prader-Willi Syndrome Due To Translocation
Bifid uvula, Preauricular skin tag, Carious teeth, Small hand, Retrognathia, Downturned corners o... ORPHA:177907
Holzgreve Syndrome
Webbed neck, Aplasia/Hypoplasia of the tongue, Macrotia, Low-set, posteriorly rotated ears, Turri... ORPHA:2167
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Eosinophilia ORPHA:169160
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Sinus bradycardia, Varicose veins, Peripheral arterial stenosis, Paten... OMIM:126320
Mucopolysaccharidosis-Plus Syndrome
Coarse hair, Long eyelashes, Low anterior hairline, Low posterior hairline, Hirsutism, Synophrys OMIM:617303
Zellweger Syndrome
Optic atrophy, Multicystic kidney dysplasia, Micrognathia, Sensorineural hearing impairment, Vent... ORPHA:912
Helsmoortel-Van Der Aa Syndrome
Low-set ears, Small hand, Carious teeth, Posterior plagiocephaly, Ankyloglossia, Genu valgum, Eve... OMIM:615873
Ring Chromosome 22 Syndrome
Midface retrusion, Neurofibroma, Protruding tongue, Full cheeks, Thick vermilion border, Dolichoc... ORPHA:1446
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Patchy alopecia, Sparse hair OMIM:617763
Wolcott-Rallison Syndrome
Double outlet right ventricle, Atrial septal defect ORPHA:1667
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Abnormality of hair texture ORPHA:79351
Mgat2-Cdg
Prominent antihelix, Abnormal earlobe morphology, Low-set, posteriorly rotated ears, Abnormal hea... ORPHA:79329
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy OMIM:616881
Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Common caro... OMIM:613834
X-Linked Intellectual Disability, Cabezas Type
Small hand, Abnormal earlobe morphology, Thick lower lip vermilion, Open bite, Camptodactyly of f... ORPHA:85293
Fanconi Anemia, Complementation Group I
Conductive hearing impairment, Patent foramen ovale, Ventricular septal defect, Short neck, Atria... OMIM:609053
Blue Rubber Bleb Nevus
Microcytic anemia, Intestinal bleeding, Prolonged bleeding time ORPHA:1059
Autosomal Dominant Hypocalcemia
Abnormal fingernail morphology, Alopecia, Irregular hyperpigmentation, Abnormality of the nail ORPHA:428
Biotinidase Deficiency
Alopecia OMIM:253260
Paternal Uniparental Disomy Of Chromosome 6
Retrognathia, Abnormal earlobe morphology, Umbilical hernia, Micrognathia, Gingival overgrowth, P... ORPHA:96191
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Tooth Agenesis, Selective, 4
Peg-shaped maxillary lateral incisors, Agenesis of permanent teeth, Abnormality of primary teeth,... OMIM:150400
Juvenile Polyposis Of Infancy
Low-set ears, High, narrow palate, Intestinal bleeding, Protein-losing enteropathy, Midclavicular... ORPHA:79076
Cranioectodermal Dysplasia 2
Low-set ears, Micrognathia, Short neck, Everted lower lip vermilion, High palate, Cloverleaf skul... OMIM:613610
Mend Syndrome
Low-set ears, Asymmetry of the mouth, Abnormal auditory evoked potentials, Midface retrusion, Lon... ORPHA:401973
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Overfolded helix, Brachycephaly, Wide mouth OMIM:616083
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Low-set ears, Broad alveolar ridges, Optic atrophy, Cleft lip, Duodenal atresia, Frontal bossing,... OMIM:616975
Fryns Syndrome
Low-set ears, Abnormal helix morphology, Joint contracture of the hand, Short neck, Anal atresia,... OMIM:229850
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Second degree atrioventricular block, Ventricular septal defect, Overriding aorta, Pulmonary arte... OMIM:617021
Fanconi Anemia, Complementation Group L
Low-set ears, Webbed neck, Absent thumb, Hypoplastic sacrum, Anotia, Micrognathia, Short neck, Tr... OMIM:614083
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Midface retrusion, Micrognathia, Adenocarcinoma of the colon, Multiple enchondromatosis, Posterio... OMIM:620189
Pgm3-Cdg
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... ORPHA:443811
Limb-Mammary Syndrome
Alopecia, Sparse eyebrow, Absent nipple, Breast aplasia, Nail dysplasia, Hypoplastic nipples, Hyp... ORPHA:69085
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Alopecia totalis OMIM:618775
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Congenital sensorineural hearing impairment, Narrow mouth, Long philtrum, Sensorineural hearing i... OMIM:619147
Laubry-Pezzi Syndrome
Aortic regurgitation, Abnormal coronary artery morphology, Congestive heart failure, Palpitations... ORPHA:99094
Chime Syndrome
Abnormality of the outer ear, Abnormality of the dentition, Aplasia/Hypoplasia of the phalanges o... ORPHA:3474
Gand Syndrome
Thin upper lip vermilion, Short philtrum, Wide mouth OMIM:615074
Intellectual Developmental Disorder, Autosomal Dominant 73
Low-set ears, Recurrent otitis media, Ankyloglossia, Cleft soft palate, Everted lower lip vermili... OMIM:620450
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Webbed neck, Optic atrophy, Dental malocclusion, Hearing impairment, Downturned corners of mouth,... ORPHA:487796
Myasthenic Syndrome, Congenital, 10
Tongue atrophy OMIM:254300
Tick-Borne Encephalitis
Hearing impairment, Stiff neck, Vertigo, Abnormal cranial nerve morphology, Abnormal glossopharyn... ORPHA:297
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect ORPHA:3405
Alzahrani-Kuwahara Syndrome
Low-set ears, Coronary sinus enlargement, Hearing impairment, Micrognathia, Patent foramen ovale,... OMIM:619268
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Hearing impairment, Micrognathia, Cleft soft palate, Submucous cleft soft palate, Short neck, Fac... ORPHA:2282
Mucolipidosis Ii Alpha/Beta
Hypoplastic scapulae, Hypoplasia of the odontoid process, Myelopathy, Long philtrum, Umbilical he... OMIM:252500
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Hypopigmentation of the skin, Nail dystrophy, Generalized reticulate brown pigmentation... ORPHA:79396
Progeria-Short Stature-Pigmented Nevi Syndrome
Low posterior hairline, Alopecia, Hyperpigmented nevi ORPHA:2959
Bcard Syndrome
Nail dysplasia, Coarse hair OMIM:612394
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Dental malocclusion, Long philtrum, Micrognathia, Conical incisor, Thin vermilion border, Maxilla... ORPHA:73223
Dominant Beta-Thalassemia
Abnormality of the dentition, Hyperplasia of the maxilla, Malar prominence, Genu valgum, Frontal ... ORPHA:231226
Angelman Syndrome
Optic atrophy, Widely spaced teeth, Wide mouth, Protruding tongue, Abnormal facial shape, Optic d... ORPHA:72
Nestor-Guillermo Progeria Syndrome
Alopecia, Sparse eyebrow, Spotty hyperpigmentation, Nail dystrophy, Sparse eyelashes, Sparse scal... OMIM:614008
Radio-Renal Syndrome
High, narrow palate, Downturned corners of mouth, Retrognathia, Micromelia, Micrognathia, Short n... ORPHA:3015
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Alopecia totalis, Alopecia, Nail dystrophy, Abnormality of the periungual region ORPHA:293978
Chromosome 13Q14 Deletion Syndrome
Low-set ears, Hearing impairment, Umbilical hernia, Micrognathia, Thin upper lip vermilion, Deep ... OMIM:613884
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Dental malocclusion, Hearing impairment, Abnormal earlobe morphology, Retr... ORPHA:96121
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Sparse hair, Thick hair, Coarse hair ORPHA:357074
Eisenmenger Syndrome
Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Patent ductus ... ORPHA:97214
Beaulieu-Boycott-Innes Syndrome
Carious teeth, Dental malocclusion, Micrognathia, Ventricular septal defect, Patent ductus arteri... OMIM:613680
Pontocerebellar Hypoplasia, Type 17
Microretrognathia, Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal de... OMIM:619909
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:612199
Prune Belly Syndrome
Multicystic kidney dysplasia, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defec... ORPHA:2970
Arthrogryposis And Ectodermal Dysplasia
Joint contracture of the hand, Cleft upper lip, Abnormal dental enamel morphology, Oligodontia, O... OMIM:601701
Phelan-Mcdermid Syndrome
Dental malocclusion, Hearing impairment, Micrognathia, Malar flattening, Ventricular septal defec... OMIM:606232
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Absence of lymph node germinal center, Hepatosplenomegaly... ORPHA:79124
Porphyria, Congenital Erythropoietic
Alopecia, Hypopigmentation of the skin, Hypertrichosis, Loss of eyelashes, Hyperpigmentation of t... OMIM:263700
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Low-set ears, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Congeni... ORPHA:457279
Mucopolysaccharidosis Type 3
Macroglossia, Abnormality of the dentition, Craniofacial hyperostosis, Conductive hearing impairm... ORPHA:581
Dyggve-Melchior-Clausen Disease
Hypoplastic facial bones, Hypoplastic scapulae, Hypoplasia of the odontoid process, Rhizomelic ar... OMIM:223800
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Alopecia, Hyperpigmentation of the skin, Hirsutism ORPHA:90795
Autosomal Dominant Popliteal Pterygium Syndrome
Popliteal pterygium, Fibrous syngnathia, Lip pit, Micrognathia, Thin upper lip vermilion, Non-mid... ORPHA:1300
ERI1-related disease
Low-set ears, Conductive hearing impairment, Tricuspid regurgitation, Abnormal heart morphology, ... OMIM:608739
Ring Chromosome 13 Syndrome
Frontal bossing, Aplasia/hypoplasia involving bones of the hand, Trigonocephaly, Micrognathia, An... ORPHA:96176
Floating-Harbor Syndrome
Low-set ears, Carious teeth, Recurrent otitis media, Low posterior hairline, Short neck, Celiac d... OMIM:136140
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Umbilical hernia, Persistence of primary teeth, Ventricular septal defect, Atrial septal defect, ... OMIM:619769
Pontocerebellar Hypoplasia, Type 8
Low-set ears, Posteriorly rotated ears, Patent foramen ovale, Ventricular septal defect OMIM:614961
Smith-Lemli-Opitz Syndrome
Micrognathia, Sensorineural hearing impairment, Short neck, Biparietal narrowing, Hip dislocation... ORPHA:818
Neutral Lipid Storage Disease With Ichthyosis
Alopecia ORPHA:98907
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Sparse hair, Fine hair, Brittle hair OMIM:618891
16P13.11 Microdeletion Syndrome
Low-set ears, Preauricular skin tag, Atresia of the external auditory canal, Cleft upper lip, Cam... ORPHA:261236
Histiocytosis-Lymphadenopathy Plus Syndrome
Hearing impairment, Retrognathia, Facial telangiectasia, Mitral valve prolapse, Sensorineural hea... OMIM:602782
Generalized Arterial Calcification Of Infancy
Conductive hearing impairment, Hearing impairment, Stapes ankylosis, Abnormal hip joint morpholog... ORPHA:51608
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Low-set ears, Atrial septal defect, Ventricular septal defect ORPHA:261190
Schimke Immunoosseous Dysplasia
Coarse hair, Fine hair, Hypermelanotic macule OMIM:242900
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Brittle hair OMIM:616084
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Hearing impairment, Coronary artery fistula, Ventricular septal defect, Neonatal death, Atrial se... OMIM:620024
Congenital Disorder Of Glycosylation, Type Iil
Optic atrophy, Retrognathia, Ventricular septal defect, Enamel hypoplasia, Atrial septal defect, ... OMIM:614576
Tetrasomy 9P
Abnormal earlobe morphology, Umbilical hernia, Juxtaductal coarctation of the aorta, Abnormal den... ORPHA:3310
X-Linked Lissencephaly With Abnormal Genitalia
Aganglionic megacolon, Micrognathia, Patent ductus arteriosus, Ventricular septal defect ORPHA:452
Vacterl With Hydrocephalus
Abnormality of the outer ear, Absence of the sacrum, Microtia, third degree, Retrognathia, Anotia... ORPHA:3412
Holoprosencephaly 3
Bifid uvula, Cleft lip, Midface retrusion, Proboscis, Malar flattening, Solitary median maxillary... OMIM:142945
Oculocerebral Hypopigmentation Syndrome, Cross Type
Narrow mouth, Abnormal palate morphology, Microdontia, Sensorineural hearing impairment, Dolichoc... ORPHA:2719
Alg9-Cdg
Low-set ears, Bifid uvula, Rhizomelia, Microretrognathia, Long philtrum, Large fleshy ears, Low-s... ORPHA:79328
Woodhouse-Sakati Syndrome
Alopecia, Sparse hair, Fine hair OMIM:241080
Coffin-Siris Syndrome 5
Short distal phalanx of finger, Thick lower lip vermilion, Thin upper lip vermilion, Coarse facia... OMIM:616938
Spastic Paraplegia 52, Autosomal Recessive
Thick vermilion border, Coarse facial features, High palate, Short philtrum, Wide mouth OMIM:614067
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Cervical spinal cord atrophy, Sensorineural hearing impairme... ORPHA:101085
Koolen-De Vries Syndrome
Abnormality of hair texture, Iris hypopigmentation, Fair hair OMIM:610443
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Anencephaly, Spina bifida, Ventricular septal defect ORPHA:2476
Pediatric Systemic Lupus Erythematosus
Alopecia ORPHA:93552
Bilateral Perisylvian Polymicrogyria
Bilateral perisylvian polymicrogyria, Hearing impairment, Perisylvian predominant thick cortex pa... ORPHA:98889
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Low-set ears, Pancreatic lymphangiectasis, Micrognathia, Redundant neck skin, Ventricular septal ... ORPHA:1655
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Low-set ears, Hearing impairment, Micrognathia, Patent foramen ovale, Ventricular septal defect, ... OMIM:208085
Orofaciodigital Syndrome Type 3
Low-set ears, Bifid uvula, Abnormality of the dentition, Hamartoma of tongue, Irregular dentition... ORPHA:2752
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Epistaxis, Impaired collagen-induced platelet aggregation, Acute monocytic leukemia, Impaired ara... OMIM:601399
Phace Association
Optic atrophy, Arterial stenosis, Ventricular septal defect, Coarctation of aorta, Aortic aneurys... OMIM:606519
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transformation ... ORPHA:35078
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Sen... OMIM:618748
Donnai-Barrow Syndrome
Low-set ears, Hearing impairment, Umbilical hernia, Malar flattening, Sensorineural hearing impai... OMIM:222448
Galloway-Mowat Syndrome 6
High palate, Wide mouth, Downturned corners of mouth, Microdontia OMIM:618347
Platelet Disorder, Undefined
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Alpha-Thalassemia
Malar prominence, Hyperplasia of the maxilla ORPHA:846
Achard Syndrome
Brachycephaly, Micrognathia, Broad skull OMIM:100700
Leopard Syndrome 1
Low-set ears, Webbed neck, Mandibular prognathia, Sensorineural hearing impairment, Protruding ea... OMIM:151100
Peters Plus Syndrome
Micrognathia, Short neck, Round face, Anal atresia, Short foot, Long face, Short toe, Low-set, po... ORPHA:709
1P36 Deletion Syndrome
Pyloric stenosis, Optic atrophy, Conductive hearing impairment, Midface retrusion, Long philtrum,... ORPHA:1606
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... ORPHA:206436
Beck-Fahrner Syndrome
Protruding ear, Cardiomegaly, Ventricular septal defect OMIM:618798
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Delayed ossification of carpal bon... OMIM:300106
Lissencephaly 9 With Complex Brainstem Malformation
Low-set ears, Ventricular septal defect OMIM:618325
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl... ORPHA:99027
Nijmegen Breakage Syndrome
Anal stenosis, Cleft upper lip, Macrotia, Recurrent otitis media, Malar prominence, Micrognathia,... OMIM:251260
Specc1L-Related Hypertelorism Syndrome
Low-set ears, Abnormal helix morphology, Umbilical hernia, Tetralogy of Fallot, Ventricular septa... ORPHA:1519
Adenylosuccinase Deficiency
Low-set ears, Long philtrum, Thin upper lip vermilion, Smooth philtrum, Brachycephaly, Wide mouth... OMIM:103050
Methimazole Embryofetopathy
Coarctation of aorta, Abnormal aortic morphology, Ventricular septal defect ORPHA:1923
Autoimmune Polyendocrine Syndrome, Type Ii
Alopecia OMIM:269200
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Depigmentation/hyperpigmentation of skin, Hypoplastic nipples, Hypertrichosis, Curly hair ORPHA:480880
Teebi Hypertelorism Syndrome 1
Aortic root aneurysm, Natal tooth, Micrognathia, Ventricular septal defect, Atrial septal defect OMIM:145420
Lmna-Related Cardiocutaneous Progeria Syndrome
Alopecia universalis, Premature graying of hair, Absent eyelashes, Absent eyebrow, Sparse hair ORPHA:363618
Temple-Baraitser Syndrome
Short distal phalanx of finger, Downturned corners of mouth, Long philtrum, Thick vermilion borde... OMIM:611816
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Tongue atrophy, Axonal degeneration OMIM:616155
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Multiple cafe-au-lait spots, Hypopigmented skin patches, Fine hair, Aplasia/Hypoplasia of the eye... ORPHA:2637
H Syndrome
Abnormal eyebrow morphology, Alopecia, Hyperpigmentation of the skin, Hypertrichosis ORPHA:168569
Omodysplasia 1
Short tibia, Limited knee flexion/extension, Limited elbow flexion, Micrognathia, Short neck, Hyp... OMIM:258315
Vitamin D-Dependent Rickets, Type 2A
Alopecia universalis OMIM:277440
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Hirsutism ORPHA:189427
Meckel Syndrome
Optic atrophy, Aplasia/Hypoplasia of the tongue, Low-set, posteriorly rotated ears, Furrowed tong... ORPHA:564
Coffin-Siris Syndrome 1
Low-set ears, Hearing impairment, Aplasia/Hypoplasia of the patella, High palate, Duodenal ulcer,... OMIM:135900
Focal Dermal Hypoplasia
Low-set ears, Multicystic kidney dysplasia, Hearing impairment, Umbilical hernia, Abnormal dental... ORPHA:2092
Brown-Vialetto-Van Laere Syndrome 1
Tongue fasciculations, Hearing impairment, Sensorineural hearing impairment, Ankle clonus, Crania... OMIM:211530
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Mitral regurgitation, Coro... OMIM:617168
Mixed Connective Tissue Disease
Alopecia ORPHA:809
Trichorhinophalangeal Syndrome, Type Ii
Low-set ears, Carious teeth, Plagiocephaly, Hearing impairment, Hyperplasia of the maxilla, Skull... OMIM:150230
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Hearing abnormality, Protruding ear, Meningocele, Glossoptosis... ORPHA:2031
Von Willebrand Disease, Type 3
Epistaxis, Thrombocytopenia, Impaired platelet aggregation, Joint hemorrhage, Prolonged bleeding ... OMIM:277480
Beta-Thalassemia Major
Abnormality of the dentition, Hyperplasia of the maxilla, Malar prominence, Genu valgum, Frontal ... ORPHA:231214
Mesomelia-Synostoses Syndrome
Metacarpal synostosis, Tarsometatarsal synostosis, Microretrognathia, Hearing impairment, Microme... OMIM:600383
Pericardial And Diaphragmatic Defect
Abnormal heart morphology, Tetralogy of Fallot, Partial diaphragmatic absence of pericardium, Pal... ORPHA:2847
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Cong... OMIM:613426
Developmental And Epileptic Encephalopathy 100
Small hand, Polymicrogyria, Elbow flexion contracture, Micrognathia, Gingival overgrowth, Protrud... OMIM:619777
Syndromic Diarrhea
Trichorrhexis nodosa, Uncombable hair, Generalized hypopigmentation, Brittle hair, Hypopigmentati... ORPHA:84064
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Carious teeth, Anal fissure, Ankyloglossia, Erosion of oral mucosa, Narrow mouth, Oral mucosal bl... ORPHA:79408
Mucopolysaccharidosis, Type Iiid
Coarse hair, Facial hirsutism, Thick eyebrow, Hirsutism, Synophrys OMIM:252940
Leprosy
Enlarged peripheral nerve, Abnormal facial skeleton morphology, Abnormal autonomic nervous system... ORPHA:548
C Syndrome
Hypoplasia of the ear cartilage, Joint dislocation, Micromelia, Long philtrum, Dislocated radial ... ORPHA:1308
3Q29 Microduplication Syndrome
Low-set ears, Short neck, Hearing impairment, Ventricular septal defect ORPHA:251038
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... ORPHA:210122
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Optic disc pallor, Cystic renal dysplasia, Ventricular septal defect OMIM:613730
Distal Renal Tubular Acidosis
Enlarged vestibular aqueduct, Renal cyst, Sensorineural hearing impairment ORPHA:18
Nijmegen Breakage Syndrome
Anal stenosis, Retrognathia, Macrotia, Hearing abnormality, Abnormality of neuronal migration, Sh... ORPHA:647
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Conotruncal defect, Situs inv... ORPHA:3097
Coffin-Siris Syndrome
Short 5th finger, Delayed eruption of teeth, Hearing impairment, Thick lower lip vermilion, Thin ... ORPHA:1465
Holt-Oram Syndrome
Micrognathia, Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Sinus b... OMIM:142900
Celiac Disease, Susceptibility To, 1
Alopecia OMIM:212750
Faundes-Banka Syndrome
Low-set ears, Plagiocephaly, Cupped ear, Conductive hearing impairment, Long ear, Micrognathia, T... OMIM:619376
Yunis-Varon Syndrome
Low-set ears, Hypoplastic scapulae, Craniofacial disproportion, Micrognathia, Sensorineural heari... OMIM:216340
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of the temporomandibular joint, Open mouth, Protruding tongue, Pachygyria, Macrogloss... ORPHA:258
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Multicystic kidney dysplasia, Hearing impairment, Low-set, posteriorly rota... ORPHA:1052
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Low-set ears, Ventricular septal defect OMIM:617895
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Hearing impairment, Histiocytoid cardiomyopathy, Ventricular sept... OMIM:309801
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Hyperplasia of midface, Thick lower lip vermilion, Thick upper lip vermilion, Open mouth, Wide mo... OMIM:611087
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Low-set ears, Hematochezia, Peripheral pulmonary artery stenosis, Recurrent otitis media, Ventric... OMIM:619575
Trichothiodystrophy
Aplasia/Hypoplasia of the nails, Ridged nail, Tiger tail banding, Alopecia of scalp, Concave nail... ORPHA:33364
Diamond-Blackfan Anemia 5
Low-set ears, Ventricular septal defect OMIM:612528
Loeys-Dietz Syndrome 2
Aortic root aneurysm, Generalized arterial tortuosity, Micrognathia, Abdominal aortic aneurysm, M... OMIM:610168
Pitt-Hopkins Syndrome
Short fifth metatarsal, Small hand, Cupped ear, Widely spaced teeth, Wide mouth, Open mouth, Shor... OMIM:610954
Adrenomyeloneuropathy
Abnormality of skin pigmentation, Lip hyperpigmentation, Frontal balding, Fine hair ORPHA:139399
Biotinidase Deficiency
Alopecia ORPHA:79241
Houge-Janssens Syndrome 1
Facial hypotonia, Pyloric stenosis, Congenital muscular torticollis OMIM:616355
Meckel Syndrome, Type 1
Low-set ears, Webbed neck, Natal tooth, Occipital encephalocele, Cleft upper lip, Camptodactyly o... OMIM:249000
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Low-set ears, Pulmonary artery stenosis, Ventricular septal defect OMIM:611812
Weaver Syndrome
Fine hair, Melanocytic nevus, Thin nail, Deep-set nails, Sparse hair OMIM:277590
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Low-set ears, Right ventricular hypertrophy, Ventricular septal defect OMIM:613404
Microphthalmia, Syndromic 6
Low-set ears, Bifid uvula, Lambdoidal craniosynostosis, Microglossia, Midface retrusion, Hearing ... OMIM:607932
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Low-set ears, Webbed neck, Hearing impairment, Ventricular septal defect, Short neck, Posteriorly... OMIM:178110
Keutel Syndrome
Peripheral pulmonary artery stenosis, Pulmonary artery hypoplasia, Hearing impairment, Macrotia, ... OMIM:245150
Neurocardiofaciodigital Syndrome
Hearing impairment, Retrognathia, Tetralogy of Fallot, Atrial septal defect, Optic disc pallor, D... OMIM:619869
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Dilated cardiomyopathy, Encephalocele, Transposition of the great arteries, Atrial... OMIM:253800
Lymphedema-Distichiasis Syndrome
Webbed neck, Tetralogy of Fallot, Micrognathia, Ventricular septal defect, Arrhythmia, Varicose v... OMIM:153400
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Redundant neck skin, Ventricular septal defect, Pulmonary arterial hypertension, Atrial septal de... ORPHA:2519
Dyskeratosis Congenita, X-Linked
Alopecia, Premature graying of hair, Pterygium of nails, Ridged nail, Nail dystrophy, Sparse eyel... OMIM:305000
Aortic Valve Disease 2
Aortic valve stenosis, Aortic regurgitation, Calcification of the aorta, Mitral regurgitation, Pa... OMIM:614823
Otosclerosis 4
Mixed hearing impairment, Otosclerosis OMIM:611571
Mucopolysaccharidosis, Type Vii
Coarse hair, Thick eyebrow, Hirsutism OMIM:253220
Sympathetic Ophthalmia
Alopecia, Vitiligo, Poliosis ORPHA:79098
Menke-Hennekam Syndrome 1
Low-set ears, Flat face, Square face, Hearing impairment, Prominent inferior crus of antihelix, U... OMIM:618332
Mandibuloacral Dysplasia With Type A Lipodystrophy
Mottled pigmentation, Alopecia, Sparse scalp hair, Onychogryposis OMIM:248370
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Bifid uvula, Tooth malposition, Failure of eruption of permanent teeth, Submucous cleft hard pala... ORPHA:2250
3Mc Syndrome 1
Conductive hearing impairment, Hearing impairment, Ventricular septal defect, Conjunctival telang... OMIM:257920
Tatton-Brown-Rahman Syndrome
Umbilical hernia, Tricuspid regurgitation, Mitral regurgitation, Ventricular septal defect, Atria... OMIM:615879
Colchicine Poisoning
Alopecia ORPHA:31824
Simpson-Golabi-Behmel Syndrome
High, narrow palate, Webbed neck, Abnormal helix morphology, Mandibular prognathia, Congenital hi... ORPHA:373
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect OMIM:616816
Bloom Syndrome
Narrow face, Malar flattening, Protruding ear, Agenesis of maxillary lateral incisor, Dolichocephaly OMIM:210900
Holoprosencephaly 2
Bifid uvula, Midface retrusion, Proboscis, Median cleft palate, Malar flattening, Submucous cleft... OMIM:157170
Ritscher-Schinzel Syndrome 2
Broad neck, Pulmonary artery hypoplasia, Ventricular septal defect, Low posterior hairline, Atria... OMIM:300963
Noonan Syndrome 1
Low-set ears, Webbed neck, Dental malocclusion, Hearing impairment, Hypertrophic cardiomyopathy, ... OMIM:163950
Myopathy, Centronuclear, X-Linked
Pyloric stenosis, High palate, Facial palsy, Flexion contracture, Diaphragmatic eventration OMIM:310400
Scheie Syndrome
Abnormal nerve conduction velocity, Sensorineural hearing impairment, Coarse facial features, Eve... ORPHA:93474
Fraser Syndrome 2
Low-set ears, Atresia of the external auditory canal, Intestinal malrotation, Narrow mouth, Short... OMIM:617666
Scalp-Ear-Nipple Syndrome
Sparse pubic hair, Fine hair, Breast aplasia, Nail dysplasia, Patchy alopecia, Sparse axillary ha... OMIM:181270
Ectodermal Dysplasia-Skin Fragility Syndrome
Alopecia universalis, Sparse hair, Nail dystrophy, Hypohidrosis ORPHA:158668
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue fasciculations, Tongue atrophy OMIM:613435
Kawasaki Disease
Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal defect without pul... ORPHA:2331
Codas Syndrome
Crumpled ear, Conductive hearing impairment, Delayed eruption of teeth, Atrioventricular canal de... OMIM:600373
Weill-Marchesani Syndrome
Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect ORPHA:3449
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Low-set ears, Retrognathia, Atrioventricular canal defect, Micrognathia, Abnormal antihelix morph... ORPHA:3047
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Highly arched eyebrow, Fine hair, Low posterior hairline, Sparse hair, Cafe-au-lait spot OMIM:613563
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Neutropenia, T... ORPHA:158048
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Optic atrophy, Frontal bossing, Polymicrogyria, Facial asymmetry, Full cheeks, Wide mouth ORPHA:60040
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia, Craniosynostosis, Downturned corners of mouth, Abnormal tongue morphology ORPHA:531151
Popliteal Pterygium Syndrome
Bifid uvula, Intercrural pterygium, Popliteal pterygium, Fibrous syngnathia, Cleft upper lip, Low... OMIM:119500
Achondrogenesis, Type Ia
Low-set ears, Flat face, Hypoplastic scapulae, Severe limb shortening, Hypoplastic sacrum, Microm... OMIM:200600
Double Outlet Left Ventricle
Abnormal right ventricular function, Cardiomegaly, Ventricular septal defect, Bicuspid pulmonary ... ORPHA:3427
Factor V Deficiency
Epistaxis, Prolonged bleeding time, Prolonged prothrombin time OMIM:227400
Vascular Ehlers-Danlos Syndrome
Aplasia/Hypoplasia of the earlobes, Carious teeth, Periodontitis, Narrow mouth, Abnormal intestin... ORPHA:286
Den Hoed-De Boer-Voisin Syndrome
Carious teeth, Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Ventricular se... OMIM:619229
Nicolaides-Baraitser Syndrome
Dry hair, Sparse medial eyebrow, Hypertrichosis, Long eyelashes, Low anterior hairline, Low poste... OMIM:601358
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Low-set ears, Micrognathia, Ventricular septal defect, Renal cyst, Macrotia OMIM:250410
Lacrimoauriculodentodigital Syndrome
Low-set ears, Carious teeth, Xerostomia, Micrognathia, Sensorineural hearing impairment, Abnormal... ORPHA:2363
Duane-Radial Ray Syndrome
Sensorineural hearing impairment, Ventricular septal defect, Aganglionic megacolon, Slit-like ope... OMIM:607323
Nephrotic Syndrome, Type 1
Gastroesophageal reflux, Pyloric stenosis OMIM:256300
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Sparse eyebrow, Fine hair, Nail dystrophy, Sparse eyelashes, Onycholysis, Sparse scalp hair OMIM:614748
Fraser Syndrome
Abnormality of the outer ear, Atresia of the external auditory canal, Encephalocele, Abnormality ... ORPHA:2052
Neu-Laxova Syndrome 1
Low-set ears, Broad neck, Hydranencephaly, Small placenta, Micrognathia, Short umbilical cord, Pa... OMIM:256520
Gaucher Disease, Type Ii
Double aortic arch, Trismus OMIM:230900
Chromosome 1Q41-Q42 Deletion Syndrome
Low-set ears, Holoprosencephaly, Ventricular septal defect, Microtia OMIM:612530
Brachydactyly, Type B1
Delayed eruption of permanent teeth, Ventricular septal defect OMIM:113000
Pontocerebellar Hypoplasia, Type 1B
Tongue fasciculations, Tongue atrophy, Hip dislocation OMIM:614678
Systemic Sclerosis
Alopecia, Irregular hyperpigmentation, Spotty hypopigmentation, Hypohidrosis, Nail bed telangiect... ORPHA:90291
Diamond-Blackfan Anemia
Low-set ears, Webbed neck, Abnormal heart morphology, Micrognathia, Radial artery aplasia, Ventri... ORPHA:124
Lipoid Proteinosis
Abnormal oral mucosa morphology, Microglossia, Thick lower lip vermilion, Abnormality of the ging... ORPHA:530
Autoimmune Polyendocrinopathy Type 4
Alopecia, Vitiligo ORPHA:227990
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous clef... OMIM:192445
Hydrolethalus Syndrome 1
Low-set ears, Broad neck, Abnormal cortical gyration, Upper limb undergrowth, Micrognathia, Media... OMIM:236680
Criss-Cross Heart
Supravalvular aortic stenosis, Mitral stenosis, Abnormal mitral valve morphology, Ventricular sep... ORPHA:1461
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Cholesteatoma, Atrial septal defect, Ventricular septal defect OMIM:610978
Rothmund-Thomson Syndrome
Sparse eyebrow, Hypopigmentation of the skin, Small nail, Alopecia totalis, Reticular hyperpigmen... ORPHA:2909
Jacobsen Syndrome
Low-set ears, Optic atrophy, Micrognathia, Ventricular septal defect, Short neck, Atrial septal d... OMIM:147791
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Renal cyst, Atrial septal defect, Hydrocephalus, Mening... OMIM:611134
Otosclerosis 10
Otosclerosis OMIM:615589
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Narrow face, Tented upper lip vermilion, Open mouth, Abnormal facial shape, Wide mouth ORPHA:500533
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Scleromyxedema
Narrow mouth, Abnormality of the neck ORPHA:167635
Trisomy X
Multicystic kidney dysplasia, Atrial septal defect, Ventricular septal defect ORPHA:3375
Coffin-Siris Syndrome 4
Hearing impairment, Mitral atresia, Ventricular septal defect, Atrial septal defect, Pulmonary ar... OMIM:614609
Leigh Syndrome
Frontal hirsutism, Alopecia, Hypertrichosis ORPHA:506
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Low-set ears, Abnormal helix morphology, Optic atrophy, Hearing impairment,... OMIM:614866
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon, Ventricular septal defect OMIM:235750
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Decreased response to growth hormone stimulation test, Abnormal T cell count, Absent circulating ... OMIM:307200
Ogden Syndrome
Low-set ears, Torsade de pointes, Recurrent otitis media, Micrognathia, Ventricular septal defect... OMIM:300855
Proboscis Lateralis
Abnormality of the maxillary sinus, Abnormal facial skeleton morphology, Long philtrum, Optic dis... ORPHA:141099
Familial Bicuspid Aortic Valve
Aortic valve stenosis, Aortic regurgitation, Aortic valve calcification, Hypoplastic left heart, ... ORPHA:402075
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Neonatal death, Persistent left superior vena cava, Transposition ... OMIM:314390
Phakomatosis Pigmentokeratotica
Patchy alopecia, Hyperhidrosis, Melanocytic nevus ORPHA:2874
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Median cleft palate, Encephalocele, Median ... ORPHA:1827
Donohue Syndrome
Low-set ears, Thick lower lip vermilion, Gingival overgrowth, Elfin facies, Small face, Wide mout... OMIM:246200
Pentalogy Of Cantrell
Tetralogy of Fallot, Abnormal pericardium morphology, Encephalocele, Ventricular septal defect, A... ORPHA:1335
Melkersson-Rosenthal Syndrome
Furrowed tongue, Facial palsy, Abnormal autonomic nervous system physiology, Cranial nerve paraly... ORPHA:2483
Brain-Lung-Thyroid Syndrome
Webbed neck, Patent foramen ovale, Ventricular septal defect, Sensorineural hearing impairment, P... ORPHA:209905
Intellectual Developmental Disorder, Autosomal Dominant 47
Increased nuchal translucency, Ventricular septal defect OMIM:617635
Myopathy With Extrapyramidal Signs
Optic atrophy, Short neck, Ventricular septal defect OMIM:615673
Intellectual Developmental Disorder, Autosomal Dominant 53
Posterior plagiocephaly, Intestinal malrotation, Genu valgum, Brachycephaly, Microtia, Wide mouth... OMIM:617798
Cockayne Syndrome Type 1
Optic atrophy, Hearing impairment, Abnormality of peripheral nerve conduction, Absent brainstem a... ORPHA:90321
Diets-Jongmans Syndrome
Hearing impairment, Umbilical hernia, Long ear, Ventricular septal defect, Interrupted inferior v... OMIM:618846
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Anal stenosis, Tented upper lip vermilion, Sensorineural hearing impairment, Aganglionic megacolo... OMIM:614207
Juvenile Dermatomyositis
Alopecia ORPHA:93672
Carpenter Syndrome 2
Low-set ears, Webbed neck, Broad neck, Carious teeth, Dental malocclusion, Retrognathia, Umbilica... OMIM:614976
Jacobsen Syndrome
Aortic valve stenosis, Webbed neck, Aplasia/Hypoplasia of the earlobes, Hypoplastic left heart, M... ORPHA:2308
Behcet Syndrome
Patchy alopecia OMIM:109650
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Coombs-positive hemolytic anemia, L... ORPHA:83471
Intellectual Developmental Disorder, Autosomal Dominant 61
Thin upper lip vermilion, Smooth philtrum, Wide mouth OMIM:618009
Degcags Syndrome
Low-set ears, Hearing impairment, Micrognathia, Genu valgum, Unilateral conductive hearing impair... OMIM:619488
Spinocerebellar Ataxia Type 36
Vertigo, Tongue fasciculations, Tongue atrophy, Hearing impairment ORPHA:276198
Hermansky-Pudlak Syndrome 5
Epistaxis, Impaired ADP-induced platelet aggregation, Absent platelet dense granules, Thrombocyto... OMIM:614074
Spastic Paraplegia 51, Autosomal Recessive
Narrow face, Prominent antihelix, Coarse facial features, Short philtrum, Wide mouth OMIM:613744
Stüve-Wiedemann Syndrome
Abnormality of the dentition, Micromelia, Smooth tongue, Camptodactyly of finger, Elbow flexion c... ORPHA:3206
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Arrhythmia, Abnor... ORPHA:906
Fanconi Anemia
Arteriovenous malformation, Hearing impairment, Umbilical hernia, Hypertrophic cardiomyopathy, Te... ORPHA:84
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormal auditory evoked potentials, Cerebellar atrophy, Abnormal motor evoked pot... ORPHA:909
Chondrodysplasia Punctata 2, X-Linked Dominant
Patchy alopecia, Sparse eyebrow, Sparse hair, Sparse eyelashes OMIM:302960
Schneckenbecken Dysplasia
Hypoplastic scapulae, Micromelia, Malar flattening, Fibular hypoplasia, Short ribs, Hypoplastic v... ORPHA:3144
Autoimmune Polyendocrinopathy Type 3
Alopecia, Vitiligo ORPHA:227982
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2
Short philtrum, Wide mouth, Downturned corners of mouth OMIM:619759
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Aortic regurgitation, Ventricular septal defect, Protruding ear, Renal cys... ORPHA:464311
Turner Syndrome Due To Structural X Chromosome Anomalies
Low-set ears, Hearing impairment, Recurrent otitis media, Micrognathia, Gastrointestinal angiodys... ORPHA:99413
Mosaic Monosomy X
Low-set ears, Hearing impairment, Recurrent otitis media, Micrognathia, Gastrointestinal angiodys... ORPHA:99228
Monosomy X
Low-set ears, Hearing impairment, Recurrent otitis media, Micrognathia, Gastrointestinal angiodys... ORPHA:99226
Turner Syndrome
Low-set ears, Hearing impairment, Recurrent otitis media, Micrognathia, Gastrointestinal angiodys... ORPHA:881
Spinocerebellar Ataxia 36
Tongue fasciculations, Tongue atrophy, Hearing impairment OMIM:614153
Lysinuric Protein Intolerance
Sparse hair, Fine hair OMIM:222700
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Abnormal right ventricle morphology, Mitral valve prolapse, Sensori... ORPHA:500095
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnormality of the... ORPHA:171929
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Alopecia, Nail dystrophy ORPHA:37042
Tbck-Related Intellectual Disability Syndrome
Ventricular septal defect, Sensorineural hearing impairment, Short neck, Neurogenic bladder, Mand... ORPHA:488632
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Short neck, Micrognathia, Ventricular septal defect OMIM:620073
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Hearing impairment, Postauricular pit, Anal atresia, Short foot... OMIM:312870
Tetraamelia Syndrome 1
Low-set ears, Cleft upper lip, Micrognathia, Tetraamelia, Anal atresia, Cleft palate OMIM:273395
Pagod Syndrome
Hypoplastic left heart, Optic atrophy, Pulmonary artery hypoplasia, Multicystic kidney dysplasia,... ORPHA:991
Xeroderma Pigmentosum
Alopecia, Hypopigmented skin patches, Melanocytic nevus, Freckling, Hypermelanotic macule ORPHA:910
Mucolipidosis Type Ii
Fine hair, Dry hair, White hair ORPHA:576
Ataxia-Telangiectasia
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, T lympho... OMIM:208900
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Low-set ears, Ventricular septal defect, Bradycardia, Retinal hemorrhage, Tachycardia, Hypertension OMIM:614653
Thoracoabdominal Syndrome
Transposition of the great arteries, Hydrocephalus, Ectopia cordis, Cystic hygroma, Anencephaly, ... OMIM:313850
Alagille Syndrome 1
Low-set ears, Peripheral pulmonary artery stenosis, Multiple small medullary renal cysts, Tetralo... OMIM:118450
Myoclonic-Astatic Epilepsy
Long philtrum, Thick lower lip vermilion, Thin upper lip vermilion, Abnormal facial shape, Broad ... ORPHA:1942
Menkes Disease
Woolly hair, Hypopigmentation of hair, Sparse hair ORPHA:565
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Aortic regurgitation, Ventricular septal defect, Protruding ear, Renal cys... ORPHA:464306
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of the outer ear, Atresia of the external auditory canal, Hearing impairment, Tetralo... ORPHA:3186
Phosphoribosylpyrophosphate Synthetase Superactivity
Low-set ears, Hearing impairment, Gout, Sensorineural hearing impairment, Peripheral axonal neuro... OMIM:300661
Classical-Like Ehlers-Danlos Syndrome Type 2
Alopecia ORPHA:536532
Opitz Gbbb Syndrome
Low-set ears, Posteriorly rotated ears, Ventricular septal defect, Umbilical hernia OMIM:300000
Insulin-Resistance Syndrome Type B
Alopecia, Hirsutism ORPHA:2298
Renal, Genital, And Middle Ear Anomalies
Abnormality of the middle ear ossicles, Hearing impairment OMIM:267400
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Alopecia, Small nail OMIM:308050
Woods Syndrome
Optic atrophy, Ventricular septal defect OMIM:615236
Localized Scleroderma
Hypopigmented skin patches, Abnormal skin adnexa morphology, Vitiligo, Patchy alopecia, Hyperpigm... ORPHA:90289
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra... OMIM:108800
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... OMIM:610338
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Broad neck, Abnormal dental pulp morphology, Hypertrophic cardiomyopathy, Abnormal heart morpholo... ORPHA:363700
Charcot-Marie-Tooth Disease Type 4B2
Optic atrophy, Difficulty in tongue movements, Sensorineural hearing impairment, Decreased distal... ORPHA:99956
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia, Prolonged bleeding time OMIM:185050
Microphthalmia, Syndromic 1
Low-set ears, Webbed neck, Tooth malposition, High, narrow palate, Dental crowding, Hearing impai... OMIM:309800
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Optic atrophy, Atrioventricular block, Atrial flutter, Congestive... ORPHA:137675
Mowat-Wilson Syndrome
Abnormal enteric ganglion morphology, Cupped ear, Delayed eruption of teeth, Recurrent otitis med... OMIM:235730
Prothrombin Deficiency, Congenital
Epistaxis, Gastrointestinal hemorrhage, Prolonged prothrombin time, Joint hemorrhage, Prolonged b... OMIM:613679
Rothmund-Thomson Syndrome Type 1
Hypopigmentation of the skin, Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Hyper... ORPHA:221008
Neuroocular Syndrome 1
Low-set ears, Genu recurvatum, Cupped ear, Downturned corners of mouth, Short uvula, Umbilical he... OMIM:619539
Cockayne Syndrome B
Pigmentary retinopathy, Dry hair, Abnormal hair morphology, Abnormality of skin pigmentation, Anh... OMIM:133540
Mckusick-Kaufman Syndrome
Hypoplastic left heart, Multicystic kidney dysplasia, Tetralogy of Fallot, Ventricular septal def... ORPHA:2473
Aneurysm-Osteoarthritis Syndrome
Bifid uvula, Dental malocclusion, Retrognathia, Umbilical hernia, Camptodactyly of finger, Protru... ORPHA:284984
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Ventricular septal defect, Renal cyst, Atrial septal defect, Stillbirth OMIM:263630
Hand-Foot-Genital Syndrome
Ventricular septal defect, Microtia ORPHA:2438
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
High, narrow palate, Plagiocephaly, Dental crowding, Widely spaced teeth, Synostosis involving th... ORPHA:466791
Microphthalmia, Syndromic 3
Optic nerve aplasia, Sensorineural hearing impairment, Ventricular septal defect, Bilateral senso... OMIM:206900
Congenital Disorder Of Glycosylation, Type Iiw
Low-set ears, Narrow face, Recurrent otitis media, Ankyloglossia, Micrognathia, Facial asymmetry,... OMIM:619525
Atypical Werner Syndrome
Abnormal hair whorl, Alopecia, Premature graying of hair, Abnormal hair morphology, Sparse body h... ORPHA:79474
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Abnormal heart morphology, Large placenta, Ventricular septal defect, Umbilical hernia ORPHA:254534
Esophageal Atresia
Hearing impairment, Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Abnorma... ORPHA:1199
Koolen-De Vries Syndrome Due To A Point Mutation
Optic atrophy, Hearing impairment, Cardiomyopathy, Macrotia, Recurrent otitis media, Abnormal hea... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Optic atrophy, Hearing impairment, Cardiomyopathy, Macrotia, Recurrent otitis media, Abnormal hea... ORPHA:363958
Thauvin-Robinet-Faivre Syndrome
Mitral valve prolapse, Ventricular septal defect, Protruding ear, Sensorineural hearing impairmen... OMIM:617107
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Low-set ears, Thin upper lip vermilion, Glossitis, Tracheoesophageal fistula, High palate, Stomat... OMIM:277380
Chromosome 1P36 Deletion Syndrome, Distal
Low-set ears, Aortic root aneurysm, Hearing impairment, Sensorineural hearing impairment, Ventric... OMIM:607872
Charcot-Marie-Tooth Disease Type 4C
Optic atrophy, Tongue fasciculations, Difficulty in tongue movements, Facial paralysis, Decreased... ORPHA:99949
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Low-set ears, Frontal bossing, Smooth philtrum, Posteriorly rotated ears, Deep philtrum, Coarse f... OMIM:617260
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Low-set ears, Tetralogy of Fallot, Muscular ventricular septal defect, Micrognathia, Patent foram... OMIM:210710
Hardikar Syndrome
Umbilical hernia, Vertigo, Mild hearing impairment, Portal hypertension, Patent foramen ovale, Ve... OMIM:301068
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Cerebellar atrophy, Cerebral atrophy, Decreas... OMIM:216400
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplastic aortic arch, Hydrocephalus, Optic nerve hypoplasia ORPHA:457284
Lethal Congenital Contracture Syndrome 2
Micrognathia, Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Cranioectodermal Dysplasia 1
Short nail, Fine hair, Slow-growing hair, Thin nail, Sparse hair OMIM:218330
Autosomal Recessive Malignant Osteopetrosis
Abnormality of hair texture ORPHA:667
Short Stature And Microcephaly With Genital Anomalies
Narrow face, Genu valgum, Narrow mouth OMIM:618702
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Low-set ears, Simple ear, Ventricular septal defect OMIM:619306
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Generalized hypopigmentation OMIM:619321
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Alopecia, Hypoplastic fingernail, Abnormal hair morphology, Hyperconvex fingernails, Thin eyebrow... ORPHA:2273
Rothmund-Thomson Syndrome Type 2
Hypopigmentation of the skin, Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Hyper... ORPHA:221016
Myopathy, Myofibrillar, 7
Elbow flexion contracture, Facial palsy, Tongue atrophy OMIM:617114
Coach Syndrome 1
Occipital encephalocele, Encephalocele, Round face, Optic disc pallor, Wide mouth, Esophageal varix OMIM:216360
Alstrom Syndrome
Alopecia, Pigmentary retinopathy OMIM:203800
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Oral leukoplakia, Elbow flexion contracture, Furrowed tongue, Knee flexion contracture, Microdont... OMIM:148210
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue fasciculations, Tongue atrophy OMIM:620285
Kabuki Syndrome 1
Low-set ears, Hearing impairment, Recurrent otitis media, Micrognathia, Ventricular septal defect... OMIM:147920
Ventriculomegaly With Cystic Kidney Disease
Renal corticomedullary cysts, Hydrocephalus, Vascular dilatation, Ventricular septal defect OMIM:219730
Pallister-Killian Syndrome
Low-set ears, Small hand, Hearing impairment, Delayed cranial suture closure, Micrognathia, Short... OMIM:601803
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphopenia, T lymphocytopenia, Lymphadenopathy, Neutropenia, Autoimmune thrombocytopenia OMIM:607944
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:613327
Lipodystrophy, Familial Partial, Type 7
Low-set ears, Narrow mouth, Tinnitus, Orthostatic hypotension, Sunken cheeks, Triangular face OMIM:606721
Adams-Oliver Syndrome 1
Alopecia, Small nail, Supernumerary nipple OMIM:100300
Occipital Horn Syndrome
Pili torti, Coarse hair OMIM:304150
Smith-Lemli-Opitz Syndrome
Low-set ears, Microretrognathia, Hearing impairment, Hypertrophic cardiomyopathy, Recurrent otiti... OMIM:270400
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventricular septal defect OMIM:615630
Agammaglobulinemia, X-Linked
Lymph node hypoplasia, Neutropenia, B lymphocytopenia, Anemia, T lymphocytopenia OMIM:300755
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic valve stenosis, Aortic regurgitation, Ventricular hypertrophy, Delayed eruption of teeth, ... OMIM:143095
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Joint contracture of the hand, Sensory axonal neuropathy, Hearing impairment, Abnormal motor nerv... ORPHA:466768
Von Willebrand Disease, Type 1
Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Impaired platelet aggregation, Joi... OMIM:193400
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Triangular face, Narrow mouth OMIM:616539
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Webbed neck, Aplasia/Hypoplasia involving bones of the skull, Plagiocephaly, Short lingual frenul... ORPHA:1521
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect OMIM:618901
Woodhouse-Sakati Syndrome
Alopecia, Aplasia/Hypoplasia of the eyebrow ORPHA:3464
Congenital Disorder Of Glycosylation, Type Iiaa
Persistent patent ductus venosus, Patent ductus arteriosus after premature birth, Ventricular sep... OMIM:620454
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Patent foramen ovale, Ventricular septal defect, ... ORPHA:26793
Norrie Disease
Optic atrophy, Abnormal helix morphology, Malar flattening, Sensorineural hearing impairment, Pro... ORPHA:649
Thrombocytopenia-Absent Radius Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Micrognathia, Malar flattening, Ventricular s... OMIM:274000
Griscelli Syndrome
Pyloric stenosis ORPHA:381
Severe Generalized Junctional Epidermolysis Bullosa
Alopecia, Nail dystrophy, Anonychia, Abnormality of the nail, Paronychia ORPHA:79404
Aprosencephaly And Cerebellar Dysgenesis
Bifid uvula, Micrognathia, Craniosynostosis OMIM:601374
Agel Amyloidosis
Xerostomia, Hearing impairment, Orthostatic hypotension due to autonomic dysfunction, Facial pals... ORPHA:85448
Galloway-Mowat Syndrome 7
Micrognathia, Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Diamond-Blackfan Anemia 1
Webbed neck, Retrognathia, Congestive heart failure, Micrognathia, Ventricular septal defect, Sho... OMIM:105650
Relapsing Polychondritis
Alopecia ORPHA:728
Short Stature-Micrognathia Syndrome
Micrognathia, Retrognathia, Ventricular septal defect OMIM:617164
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Abnormality of the outer ear, Prominent antihelix, Conductive hearing impairment, Downturned corn... ORPHA:466943
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Alopecia, Subungual hyperkeratosis, Atrichia, Nail dystrophy, Absent eyelashes, Nail dysplasia, D... OMIM:308205
Cantú Syndrome
Short distal phalanx of finger, Long philtrum, Umbilical hernia, Low posterior hairline, Short ne... ORPHA:1517
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft upper lip, Hamartoma of tongue, Intestinal malrotation, Acetabular spurs, Fibular hypoplasi... OMIM:613091
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Semilobar holoprosencephaly, Retrognathia, Ventricular septal defect, Atrial septal defect, Parti... OMIM:301044
Okamoto Syndrome
Aortic valve stenosis, Webbed neck, Low-set ears, Abnormal helix morphology, Abnormal heart morph... ORPHA:2729
Chronic Granulomatous Disease
Tracheoesophageal fistula, Pyloric stenosis ORPHA:379
Juvenile Polyposis Syndrome
Low-set ears, Rectocele, Protein-losing enteropathy, Colon cancer, Stomach cancer, Narrow mouth, ... ORPHA:2929
Systemic Lupus Erythematosus
Alopecia ORPHA:536
Cockayne Syndrome Type 3
Dry hair, Premature graying of hair ORPHA:90324
Psoriasis 14, Pustular
Polyarticular arthritis, Furrowed tongue, Oligoarthritis, Geographic tongue OMIM:614204
Focal Dermal Hypoplasia
Hypopigmentation of the skin, Supernumerary nipple, Ridged nail, Linear hyperpigmentation, Absent... OMIM:305600
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula... OMIM:615474
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Stahl ear, Umbilical hernia, Tetralogy of Fallot, Lop ear, Sensorin... OMIM:107480
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Tessier cleft, Micromelia, Cleft upper lip, Long philtrum, Micrognathia, Short ribs, Ectopic anus... ORPHA:93271
Geleophysic Dysplasia 1
Joint contracture of the hand, Long philtrum, Camptodactyly of finger, Thin upper lip vermilion, ... OMIM:231050
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Loss of eyelashes, Thin eyebrow, Alopecia, Sparse hair ORPHA:2636
Pallister-Hall Syndrome
Bifid uvula, Cleft lip, Auricular tag, Natal tooth, Atresia of the external auditory canal, Umbil... ORPHA:672
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Cupped ear, Hearing impairment, Congestive heart failure, Dilatation of the... OMIM:619475
Vici Syndrome
Lymphopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, Neutropenia, T lymp... OMIM:242840
Chronic Graft Versus Host Disease
Alopecia, Nail dystrophy, Onycholysis, Abnormality of skin pigmentation ORPHA:99921
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Low-set ears, Optic atrophy, Peripheral demyelination, Smooth philtrum, Abnormal facial shape, Gl... ORPHA:79282
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Low-set ears, Broad neck, Small earlobe, Carious teeth, Ventricular septal defect, Atrial septal ... OMIM:619522
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Brittle hair OMIM:124000
Occipital Horn Syndrome
Coarse hair, Thick hair ORPHA:198
Liver Disease, Severe Congenital
Umbilical hernia, Recurrent otitis media, Dilatation of the ventricular cavity, Micrognathia, Pat... OMIM:619991
Methylmalonic Acidemia With Homocystinuria Type Cblf
Abnormal facial shape, Glossitis, Stomatitis, Cleft palate ORPHA:79284
Proteus Syndrome
Low-set ears, Carious teeth, Pulmonary embolism, Arteriovenous malformation, Narrow internal audi... ORPHA:744
Williams-Beuren Syndrome
Recurrent otitis media, Mitral regurgitation, Mitral valve prolapse, Sensorineural hearing impair... OMIM:194050
Serkal Syndrome
Pulmonic stenosis, Ventricular septal defect ORPHA:139466
Cockayne Syndrome
Pigmentary retinopathy, Dry hair, Fine hair, Abnormality of retinal pigmentation, Anhidrosis ORPHA:191
Dermatomyositis
Alopecia, Abnormality of the nail, Abnormal hair quantity ORPHA:221
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia, Pyloric stenosis ORPHA:1001
Kikuchi-Fujimoto Disease
Alopecia ORPHA:50918
Hartnup Disease
Gingivitis, Glossitis ORPHA:2116
Coffin-Lowry Syndrome
Hyperconvex fingernails, Highly arched eyebrow, Coarse hair, Thick eyebrow OMIM:303600
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Shortened PR interval, Ventricular septal defect, Ventricular septal hypertrophy, ... OMIM:614947
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Epistaxis, Prolonged bleeding time, Decreased proportion of CD8-p... OMIM:301000
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Bilateral sensorineural hearing impairment, Microretrognathia, Profound hearing impairment, Ventr... OMIM:619418
Omphalocele Syndrome, Shprintzen-Goldberg Type
Webbed neck, Hypoplasia of the pharynx ORPHA:3164
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Peripheral pulmonary artery stenosis, Congestive heart failure, Mitral regu... OMIM:123700
Shprintzen Omphalocele Syndrome
Webbed neck, Hypoplasia of the pharynx OMIM:182210
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Protruding tongue OMIM:614325
Ulnar-Mammary Syndrome
Camptodactyly of finger, Ectopic anus, Anal atresia, Aplasia of the pectoralis major muscle, Pylo... ORPHA:3138
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic valve stenosis, Aortic regurgitation, Hearing impairment, Retrognathia, Abnormal heart mor... ORPHA:268261
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Mandibular prognathia, Umbilical hernia, Malar flattening, Ventricular septal defect, Protruding ... OMIM:620330
Fanconi Anemia, Complementation Group C
Hearing impairment, Ventricular septal defect OMIM:227645
Bloom Syndrome
Hypopigmentation of the skin, Sparse eyelashes, Patchy alopecia, Cafe-au-lait spot, Paronychia ORPHA:125
Craniotubular Dysplasia, Ikegawa Type
Optic atrophy, Hearing impairment, Optic nerve compression, Ventricular septal defect, Optic neur... OMIM:619727
Aspartylglucosaminuria
Thick lower lip vermilion, Broad face, Thickened calvaria, Brachycephaly, Coarse facial features,... OMIM:208400
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Enamel hypoplasia, Ventricular septal defect OMIM:243150
Immunodeficiency 82 With Systemic Inflammation
Reduced natural killer cell count, Decreased proportion of naive T cells, Splenomegaly, Follicula... OMIM:619381
Cornelia De Lange Syndrome
Multicystic kidney dysplasia, Conductive hearing impairment, Delayed eruption of teeth, Atresia o... ORPHA:199
Fanconi Anemia, Complementation Group N
Short neck, Atrial septal defect, Ventricular septal defect OMIM:610832
Steinert Myotonic Dystrophy
Alopecia, Early balding ORPHA:273
Vater/Vacterl Association
Occipital encephalocele, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... OMIM:192350
Sotos Syndrome
Conductive hearing impairment, Hearing impairment, Umbilical hernia, Abnormal heart morphology, V... ORPHA:821
Amyotrophic Lateral Sclerosis
Xerostomia, Tongue atrophy ORPHA:803
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Frontometaphyseal Dysplasia 2
Bifid uvula, Gastroesophageal reflux, Decreased muscle mass, Elbow contracture, Hip contracture, ... OMIM:617137
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anomalous origin of left subclavian artery, Retrognathia, Abnormal heart morphology, Patent foram... ORPHA:438213
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Multicystic kidney dysplasia, Hyphema, Recurrent otitis media, Sensorineur... ORPHA:261552
Arterial Tortuosity Syndrome
Gastroesophageal reflux, Esophagitis, Median cleft palate, Hiatus hernia, Pyloric stenosis ORPHA:3342
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Limb Body Wall Complex
Myelomeningocele, Abnormal heart morphology, Encephalocele, Short umbilical cord, Ventricular sep... ORPHA:2369
Hereditary Folate Malabsorption
Glossitis, Cheilitis ORPHA:90045
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Micrognathia, Mitral regurgitation, Malar flattening, Ventricular septal defect, Bicuspid aortic ... OMIM:271640
Cutis Laxa, Autosomal Recessive, Type Ic
Morgagni diaphragmatic hernia, Gastroesophageal reflux, Right ventricular hypertrophy, Rectal pro... OMIM:613177
Generalized Pustular Psoriasis
Cheilitis, Arthritis, Geographic tongue ORPHA:247353
Sarcoidosis
Alopecia, Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:797
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:620558
Osteogenesis Imperfecta, Type X
Pyloric stenosis OMIM:613848
Genitopatellar Syndrome
Multicystic kidney dysplasia, Delayed eruption of teeth, Hearing impairment, Micrognathia, Ventri... OMIM:606170
Multiple Endocrine Neoplasia Type 2
Paraganglioma of head and neck, Abnormal tongue morphology, Neuroma, Ganglioneuromatosis, Pheochr... ORPHA:653
Knobloch Syndrome 2
Pyloric stenosis OMIM:618458
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Patent ductus arteriosus, Cerebral hemorrhage OMIM:616682
Microsporidiosis
Glossitis, Sinusitis ORPHA:2552
Imerslund-Gräsbeck Syndrome
Angular cheilitis, Glossitis ORPHA:35858
African Trypanosomiasis
Alopecia ORPHA:3385
Myoectodermal Gonadal Dysgenesis Syndrome
Anal atresia, Diastasis recti, Pyloric stenosis OMIM:618419
Townes-Brocks Syndrome
Preauricular skin tag, Absent toe, Hearing impairment, Anteriorly placed anus, Aplasia/Hypoplasia... ORPHA:857
Arima Syndrome
Optic atrophy, Occipital meningocele, Gray matter heterotopia, Wide mouth, Esophageal varix OMIM:243910
Cowden Syndrome
Hearing impairment, Furrowed tongue, Hamartomatous polyposis, Macroglossia, High palate, Colorect... ORPHA:201
Knobloch Syndrome
Pyloric stenosis ORPHA:1571
Pmm2-Cdg
Mandibular prognathia, Retrognathia, Long philtrum, Thin upper lip vermilion, Impaired neutrophil... ORPHA:79318
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Polycystic kidney dysplasia, Atrial septal defect, Ventricular septal de... OMIM:263520
Penile Agenesis
Posteriorly rotated ears, Atrial septal defect, Cystic renal dysplasia, Ventricular septal defect ORPHA:49
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Pseudopapilledema, Sensorineural hearing impairment OMIM:146255
Carney Complex
Abnormal sperm motility, Abnormal hard palate morphology, Schwannoma, Paranasal sinus neoplasm, E... ORPHA:1359
Autosomal Recessive Cutis Laxa Type 1
Small bowel diverticula, Pyloric stenosis ORPHA:90349
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect OMIM:615503
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Pyloric stenosis ORPHA:93111
Renal Agenesis
Hypertension, Ventricular septal defect ORPHA:411709
Johanson-Blizzard Syndrome
Dilated cardiomyopathy, Hypoplasia of the primary teeth, Portal hypertension, Situs inversus tota... OMIM:243800
Pachyonychia Congenita 3
Gingivitis, Furrowed tongue, Oral leukoplakia, Chapped lip OMIM:615726
Plague
Inflammation of the large intestine, Hearing impairment, Chapped lip, Ileitis, Enterocolitis, Art... ORPHA:707
Glucagonoma
Steatorrhea, Glossitis, Stomatitis, Intestinal obstruction ORPHA:97280
Ulnar-Mammary Syndrome
Elbow flexion contracture, Anal atresia, Anal stenosis, Pyloric stenosis OMIM:181450
Knobloch Syndrome 1
Pyloric stenosis OMIM:267750
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Progressive sensorineural hearing impairment, Cleft palate ORPHA:2237
Alström Syndrome
Frontal balding, Fine hair, Hirsutism ORPHA:64
Mowat-Wilson Syndrome
Bifid uvula, Submucous cleft of soft and hard palate, Aganglionic megacolon, Gastrointestinal dys... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid uvula, Submucous cleft of soft and hard palate, Aganglionic megacolon, Cleft hard palate, C... ORPHA:261537

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Gata3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gata3.

No publications found that use IMPC mice or data for Gata3.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Gata3tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Gata3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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