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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
Sensorineural hearing impairment, Pseudopapilledema 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
Abnormal hairshaft morphology, Hair shafts flattened at irregular intervals and twisted through 1... 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
Uncombable hair, Pili canaliculi OMIM:617251
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi OMIM:617252
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Deafness-Oligodontia Syndrome
Vertigo, Abnormality of the inner ear, Sensorineural hearing impairment ORPHA:3230
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Witkop Syndrome
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair OMIM:189500
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Alopecia Universalis Congenita
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis OMIM:203655
Alopecia Areata 2
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis OMIM:610753
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Alopecia Areata 1
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis OMIM:104000
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Alveola... ORPHA:2972
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body 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
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Alopecia Universalis
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis ORPHA:701
Deafness, Autosomal Dominant 11
Abnormal vestibular function, Vertigo, Bilateral sensorineural hearing impairment OMIM:601317
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Deafness, Autosomal Recessive 2
Abnormal vestibular function, Vertigo, Sensorineural hearing impairment OMIM:600060
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... OMIM:616515
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Sparse hair, Spar... ORPHA:2722
Graham Little-Piccardi-Lassueur Syndrome
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair ORPHA:505
Deafness, Autosomal Recessive 89
Sensorineural hearing impairment, Vestibular hypofunction OMIM:613916
Deafness, Autosomal Recessive 84B
Sensorineural hearing impairment, Vestibular hypofunction OMIM:614944
Deafness, Autosomal Recessive 18B
Sensorineural hearing impairment, Vestibular hypofunction OMIM:614945
Deafness, Autosomal Recessive 94
Abnormal vestibular function, Bilateral sensorineural hearing impairment OMIM:618434
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Deafness, Autosomal Dominant 56
Abnormal vestibular function, Sensorineural hearing impairment OMIM:615629
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 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
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he... OMIM:128980
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... ORPHA:2891
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Micrognathia, Carious teeth, Supernumerary tooth, Abnormal antihelix morphology, Hypoplasia of th... ORPHA:3145
Deafness, Autosomal Recessive 30
Progressive sensorineural hearing impairment, Progressive hearing impairment OMIM:607101
Deafness, Autosomal Recessive 25
Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Deafness, Autosomal Recessive 35
Sensorineural hearing impairment, Abnormal ear morphology OMIM:608565
Auriculocondylar Syndrome 2A
Overfolding of the superior helices, Round face, Dental crowding, Posteriorly rotated ears, Micro... OMIM:614669
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Conductive hearin... ORPHA:199306
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Deafness, X-Linked 4
Sensorineural hearing impairment, High-frequency 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
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Otodental Syndrome
Delayed eruption of teeth, High-frequency sensorineural hearing impairment, Abnormal dental ename... ORPHA:2791
Deafness, Autosomal Recessive 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Deafness, Autosomal Recessive 29
Sensorineural hearing impairment, Hearing impairment OMIM:614035
Deafness, Autosomal Recessive 57
Sensorineural hearing impairment, Hearing impairment OMIM:618003
L-Ferritin Deficiency
Alopecia OMIM:615604
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Thin upper lip vermilion, Hypoplasia of the maxilla, Subcortical band heterotopia, Optic atrophy,... OMIM:618737
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod... OMIM:617294
Candidiasis, Familial, 1
Alopecia OMIM:114580
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Distal 17P13.1 Microdeletion Syndrome
Flat occiput, Triangular face, Unilateral polymicrogyria, Limited elbow movement, Protruding ear,... ORPHA:319171
Treacher Collins Syndrome 3
Micrognathia, Cleft palate, Microtia, Hypoplasia of the zygomatic bone, Conductive hearing impair... OMIM:248390
Parc Syndrome
Absent eyelashes, Absent eyebrow, Alopecia OMIM:600331
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Sensorineural hearing impairment, Tooth ankylosi... OMIM:166750
Arthrogryposis, Distal, Type 2E
Micrognathia, Trismus, Narrow mouth, Absent antihelix, Joint contracture of the hand OMIM:121070
Deafness, Autosomal Dominant 6
Progressive sensorineural hearing impairment, Low-frequency sensorineural hearing impairment OMIM:600965
Deafness, Autosomal Dominant 20
Progressive sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:604717
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Thumb Deformity And Alopecia
Alopecia, Increased groin pigmentation with raindrop depigmentation OMIM:188150
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
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 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Recessive 79
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:613307
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Absent tragus, Preauricular ski... ORPHA:79113
Deafness, Autosomal Dominant 4B
Abnormal vestibular function, Sensorineural hearing impairment OMIM:614614
Gastric Cancer
Stomach cancer OMIM:613659
Nager Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of t... ORPHA:245
Mandibulofacial Dysostosis With Alopecia
Preauricular pit, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of... OMIM:616367
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Cleft Palate-Lateral Synechia Syndrome
Micrognathia, Cleft palate, Full cheeks, Everted lower lip vermilion, Narrow mouth, Oral synechia ORPHA:2016
Split-Hand/Foot Malformation 3
Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Cleft palate, High palat... OMIM:246560
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
X-Linked Mandibulofacial Dysostosis
Low-set, posteriorly rotated ears, Micrognathia, Sensorineural hearing impairment, Protruding ear... ORPHA:1131
Familial Median Cleft Of The Upper And Lower Lips
Irregular dentition, Median cleft lip, Abnormal midface morphology, Cleft upper lip, Diastema, Ab... ORPHA:401942
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Branchiootic Syndrome
Preauricular pit, Branchial fistula, Facial palsy, Lip pit, Micrognathia, Facial asymmetry, Senso... ORPHA:52429
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair OMIM:234030
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... ORPHA:2889
Naxos Disease
Sparse scalp hair, Curly hair, Abnormality of hair texture, Hyperhidrosis, Woolly hair ORPHA:34217
Auriculocondylar Syndrome 1
Overfolding of the superior helices, Round face, Dental crowding, Posteriorly rotated ears, Micro... OMIM:602483
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Deafness, Autosomal Recessive 77
Bilateral sensorineural hearing impairment OMIM:613079
Deafness, Autosomal Dominant 3B
Adult onset sensorineural hearing impairment OMIM:612643
Deafness, X-Linked 3
Congenital sensorineural hearing impairment OMIM:300030
Deafness, Autosomal Recessive 63
Congenital sensorineural hearing impairment OMIM:611451
Deafness, Autosomal Dominant 83
Bilateral sensorineural hearing impairment OMIM:619808
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment OMIM:618013
Deafness, Autosomal Dominant 31
Old-aged sensorineural hearing impairment OMIM:608645
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Flat Face-Microstomia-Ear Anomaly Syndrome
Low-set, posteriorly rotated ears, Abnormal oral mucosa morphology, Camptodactyly of finger, Micr... ORPHA:1968
Deafness, Autosomal Recessive 119
Sensorineural hearing impairment OMIM:619615
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 Dominant 75
Sensorineural hearing impairment OMIM:618778
Deafness, Autosomal Dominant 76
Sensorineural hearing impairment OMIM:618787
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 117
Sensorineural hearing impairment OMIM:619174
Deafness, Autosomal Dominant 66
Sensorineural hearing impairment OMIM:616969
Deafness, Autosomal Recessive 112
Sensorineural hearing impairment OMIM:618257
Deafness, Autosomal Dominant 10
Sensorineural hearing impairment OMIM:601316
Deafness, Autosomal Recessive 31
Sensorineural hearing impairment OMIM:607084
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Dominant 27
Sensorineural hearing impairment OMIM:612431
Deafness, Autosomal Recessive 116
Sensorineural hearing impairment OMIM:619093
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 40
Sensorineural hearing impairment OMIM:616357
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, Autosomal Dominant 44
Sensorineural hearing impairment OMIM:607453
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
Deafness, Autosomal Recessive 113
Sensorineural hearing impairment OMIM:618410
Neuropathy, Hereditary Motor And Sensory, With Deafness, Impaired Intellectual Development, And Absent Sensory Large Myelinated Fibers
Sensorineural hearing impairment OMIM:214370
Deafness, Autosomal Recessive 100
Sensorineural hearing impairment OMIM:618422
Deafness, Autosomal Recessive 114
Sensorineural hearing impairment OMIM:618456
Deafness, Autosomal Recessive 115
Sensorineural hearing impairment OMIM:618457
Deafness, Autosomal Recessive 99
Sensorineural hearing impairment OMIM:618481
Deafness, Y-Linked 2
Sensorineural hearing impairment OMIM:400047
Deafness, Autosomal Dominant 3A
Sensorineural hearing impairment OMIM:601544
Deafness, Autosomal Recessive 16
Sensorineural hearing impairment OMIM:603720
Deafness, Autosomal Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Recessive 98
Sensorineural hearing impairment OMIM:614861
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
Deafness, Autosomal Dominant 47
Sensorineural hearing impairment OMIM:608652
Deafness, Autosomal Dominant 28
Sensorineural hearing impairment OMIM:608641
Deafness, Autosomal Dominant 53
Sensorineural hearing impairment OMIM:609965
Deafness, Autosomal Dominant 30
Sensorineural hearing impairment OMIM:606451
Deafness, Autosomal Recessive 18A
Sensorineural hearing impairment OMIM:602092
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment OMIM:605583
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Brachycephaly, Glossoptosis,... ORPHA:1452
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Mandibular prognathia, Low-set, posteriorly rotated ears, Facial asymmetry, Carious teeth, Downtu... ORPHA:1110
Hypotrichosis 1
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... OMIM:605389
Cardiofaciocutaneous Syndrome 2
Sparse hair, Curly hair, Absent eyebrow, Fine hair OMIM:615278
Kerion Celsi
Alopecia ORPHA:499
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Narrow face, Hypoplasia of the maxilla, Brachycephaly, Macrotia, Anal atre... ORPHA:93950
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Deafness, Autosomal Recessive 37
Abnormal vestibular function, Sensorineural hearing impairment OMIM:607821
Treacher-Collins Syndrome
Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Glossoptosis, High palate, Conductive hea... ORPHA:861
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia OMIM:261800
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Hypohidrosis, Abno... ORPHA:248
Treacher Collins Syndrome 2
Microretrognathia, Preauricular pit, Micrognathia, Cleft palate, Fusion of middle ear ossicles, M... OMIM:613717
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Turricephaly, Cloverleaf skull, Craniosynostosis, Preauricular skin furrow, Dolichocephaly, Heari... ORPHA:1555
Bullous Dystrophy, Hereditary Macular Type
Hyperpigmentation of the skin, Alopecia totalis, Abnormality of the nail OMIM:302000
Woolly Hair, Autosomal Dominant
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... OMIM:194300
Pierre Robin Sequence With Facial And Digital Anomalies
Frontal bossing, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxat... OMIM:311895
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Narrow face, Hypoplasia of the maxilla, Cupped ear, Short philtrum, Macrot... ORPHA:93945
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hypohidrosis, Sparse... OMIM:602400
Pili Torti, Early-Onset
Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr... OMIM:261900
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Preauricular pit, Abnormality of the... OMIM:609166
20P12.3 Microdeletion Syndrome
Hypoplasia of the maxilla, Full cheeks, Microtia, Narrow mouth, Thickened helices, Malar flatteni... ORPHA:261295
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Arthrogryposis, Distal, Type 1C
Pursed lips, Hip contracture, Camptodactyly of finger, Short neck, Cleft lip, Increased nuchal tr... OMIM:619110
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Craniofacial-Deafness-Hand Syndrome
Narrow face, Ulnar deviation of the wrist, Camptodactyly of finger, Hypoplasia of the maxilla, Se... ORPHA:1529
Arthrogryposis, Distal, Type 6
Sensorineural hearing impairment OMIM:108200
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Micrognathia, Short neck, Optic atrophy, Thin vermilion border, Low-set ears, Narrow mouth OMIM:618766
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Mandibular prognathia, Cubitus valgus, Low posterior hairline, Protruding ear, Genu valgum, Hypop... ORPHA:1778
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Nail dystrophy OMIM:616487
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Chand Syndrome
Curly hair, Nail dysplasia OMIM:214350
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Alopecia, Nail dystrophy, Nail pits OMIM:601705
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy OMIM:136600
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Abnormal eyelash morphology, Melanocytic nevus, Sparse body hair, Alopecia uni... ORPHA:1008
Trichodentoosseous Syndrome
Frontal bossing, Taurodontia, Widely spaced teeth, Dolichocephaly, Microdontia OMIM:190320
Maxillonasal Dysplasia
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Open bite, Hypopla... ORPHA:1248
Cleft Velum
Short face, Cleft soft palate, Hypoplasia of the maxilla, Velopharyngeal insufficiency, Recurrent... ORPHA:99772
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Lujan-Fryns Syndrome
Narrow face, Dental crowding, Camptodactyly of finger, Micrognathia, Abnormality of the dentition... ORPHA:776
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair OMIM:610476
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Alopecia of scalp, Trichodysplasia ORPHA:79129
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion, Facial asymmetry OMIM:133900
Crouzon Syndrome
Frontal bossing, Turricephaly, Hypoplasia of the maxilla, Optic atrophy, Brachycephaly, Narrow pa... ORPHA:207
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Marshall Syndrome
Thickened calvaria, Frontal bossing, Abnormality of the dentition, Micrognathia, Hypoplasia of th... ORPHA:560
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome
Low-set, posteriorly rotated ears, Micrognathia, Whistling appearance, Hearing abnormality, Pierr... ORPHA:1150
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Frontal bossing, Turricephaly, Hypoplasia of the maxilla, Optic atrophy, Brachycephaly, Conductiv... ORPHA:93262
14Q11.2 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Exaggerated cupid's bow, Micrognathia, Deep philtrum, Everted ... ORPHA:261120
Auriculocondylar Syndrome
Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, Micrognathia, Glossopto... ORPHA:137888
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Aarskog-Scott Syndrome
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Round face, Short palm, Genu recurv... ORPHA:915
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Frontonasal Dysplasia 1
Median cleft lip, Hypoplasia of the maxilla, Conductive hearing impairment, Hypoplastic frontal s... OMIM:136760
Antley-Bixler Syndrome
Low-set, posteriorly rotated ears, Frontal bossing, Turricephaly, Camptodactyly of finger, Cranio... ORPHA:83
Dysostosis, Stanescu Type
Persistent open anterior fontanelle, Abnormal dental enamel morphology, Micromelia, Abnormality o... ORPHA:1798
Severe Oculo-Renal-Cerebellar Syndrome
Mandibular prognathia, Narrow face, Malar prominence, Optic atrophy, Wide mouth, Large earlobe, H... ORPHA:2715
Meier-Gorlin Syndrome 8
Micrognathia, Microtia, Thick vermilion border, Low-set ears, Narrow mouth OMIM:617564
Acrofacial Dysostosis, Catania Type
Smooth philtrum, Microretrognathia, Low-set, posteriorly rotated ears, Preauricular pit, Short pa... ORPHA:1786
Toluene Embryopathy
Micrognathia, Protruding ear, Thin vermilion border, Hypoplasia of the zygomatic bone, Biparietal... ORPHA:1920
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... ORPHA:363417
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Tarsal syn... ORPHA:1307
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Camptodactyly of finger, Micrognathia, Optic atrophy, Protruding ear, Narrow mouth, Preauricular ... ORPHA:1495
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate, Micrognathia ORPHA:718
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Flat occiput, Dental crowding, Hypoplasia of the maxilla, Brachycephaly, H... OMIM:614188
Worster-Drought Syndrome
Sensorineural hearing impairment, Abnormal cranial nerve morphology ORPHA:3465
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Pfeiffer Syndrome
Mandibular prognathia, Turricephaly, Facial asymmetry, Short neck, Hypoplasia of the zygomatic bo... ORPHA:710
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Facial asymmetry, Hypopl... OMIM:218000
Whistling Face Syndrome, Recessive Form
Micrognathia, Short neck, Whistling appearance, Narrow mouth, Trismus, Elbow flexion contracture,... OMIM:277720
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Short distal phalanx of finger, Midface retrusion, Abnormality of the ... ORPHA:2776
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Camptodactyly of finger, Hypoplasia of the maxilla, Protruding ear, High palate, Short palm ORPHA:85279
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Abnormality of th... ORPHA:3253
Microcephaly-Microcornea Syndrome, Seemanova Type
Retrognathia, High palate, Brachycephaly, Narrow mouth ORPHA:2528
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Short middle phalanx of the 2nd finger, Thin vermilion border, Short p... OMIM:156510
Hypoglossia-Hypodactyly Syndrome
Jejunal atresia, Aplasia/Hypoplasia of the tongue, Facial asymmetry, Micrognathia, Adactyly, Apla... ORPHA:989
Carvajal Syndrome
Woolly hair ORPHA:65282
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin upper lip vermilion, Stapes ankylosis, Intestinal malrotation, Velopharyngeal insufficiency,... OMIM:614701
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment... ORPHA:3232
Oculoauriculofrontonasal Syndrome
Encephalocele, Micrognathia, Cleft lip, Cleft palate, Microtia, Narrow mouth, Conductive hearing ... ORPHA:398156
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104530
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... OMIM:611584
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Sensorineural hearing impairment, Osteoarthritis, Cleft palate, Long p... ORPHA:90653
Intellectual Disability-Short Stature-Hypertelorism Syndrome
Frontal bossing, Hypoplasia of the zygomatic bone, Long philtrum ORPHA:3074
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Tooth Agenesis, Selective, 9
Microdontia, Taurodontia, Selective tooth agenesis OMIM:617275
Cohen Syndrome
Macrodontia, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Micrognathia, High, ... ORPHA:193
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Melanocytic nevus, Hypohidrosis, Dystroph... ORPHA:1882
Periodontal Ehlers-Danlos Syndrome
Premature loss of primary teeth, Micrognathia, Gingival overgrowth, Agenesis of permanent teeth, ... ORPHA:75392
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fragile nails, Fine hair ORPHA:500166
Florid Cemento-Osseous Dysplasia
Jaw swelling, Abnormal midface morphology, Mandibular osteomyelitis, Supernumerary tooth, Dental ... ORPHA:83451
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair OMIM:616099
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Hypohidrosis, Sparse... OMIM:129490
Spastic Paraplegia 70, Autosomal Recessive
Micrognathia, Sensorineural hearing impairment, Ankle clonus, High palate, Low-set ears OMIM:620323
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Protruding ear OMIM:618302
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia OMIM:172880
48,Xxyy Syndrome
Delayed eruption of teeth, Broad jaw, Flat occiput, Abnormal dental enamel morphology, Facial asy... ORPHA:10
Congenital Myopathy 16
Micrognathia, High palate, Narrow mouth OMIM:618524
Hypotrichosis 5
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... OMIM:612841
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Hypomandibular Faciocranial Dysostosis
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Optic disc coloboma, Aglossia, Malar flatte... OMIM:241310
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Hypotrichosis 12
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... OMIM:615885
Bor Syndrome
Branchial cyst, Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, ... ORPHA:107
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Midface retrusion, Micrognathia, Progressive hearing impairment, High ... OMIM:613849
Intellectual Disability, Birk-Barel Type
Tented upper lip vermilion, Micrognathia, Dolichocephaly, High, narrow palate, Incisor macrodonti... ORPHA:166108
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Catel-Manzke Syndrome
Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Cleft palate, Full chee... ORPHA:1388
Atelosteogenesis, Type Iii
Frontal bossing, Rhizomelia, Short neck, Hypoplasia of the maxilla, Micrognathia, Elbow dislocati... OMIM:108721
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Mixed hypo- and hyperpigmentation of the skin, Hypermelanotic macule, Reticulated skin ... ORPHA:79397
Immunodeficiency 24
Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... OMIM:615897
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Death in childhood, Lymphopenia OMIM:619164
Charlie M Syndrome
Micrognathia, Non-midline cleft lip, Tooth agenesis, Thin vermilion border, Short philtrum, Narro... ORPHA:1406
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Short neck, Micrognathia, Cleft palate ORPHA:2015
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia ORPHA:346
Acro-Renal-Mandibular Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Narrow face, Hypoplastic scapulae, Apl... ORPHA:958
Copper Deficiency, Familial Benign
Curly hair, Early balding OMIM:121270
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Crouzon Syndrome
Mandibular prognathia, Frontal bossing, Dental crowding, Sagittal craniosynostosis, Hypoplasia of... OMIM:123500
Autosomal Recessive Spastic Paraplegia Type 27
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials ORPHA:101007
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Narrow face, Hypoplasia of the maxilla, High palate, Long face OMIM:300676
Hamel Cerebro-Palato-Cardiac Syndrome
Micrognathia, Cupped ear, Cleft palate, Narrow mouth, Malar flattening ORPHA:93946
Deafness-Infertility Syndrome
Sensorineural hearing impairment ORPHA:94064
Conductive Deafness-Malformed External Ear Syndrome
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... ORPHA:3216
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... OMIM:614929
Trichodental Dysplasia
Sparse hair, Brittle hair, Slow-growing hair, Fine hair OMIM:601453
Bjornstad Syndrome
Anhidrosis, Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular int... OMIM:262000
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Frontal bossing, Wide cranial sutures, Dental crowding, Micrognathia, ... OMIM:257850
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Attached earlobe, Low-set, posteriorly rotated ears, Narrow face, Camptoda... ORPHA:1327
2Q32Q33 Microdeletion Syndrome
Long face, Dental crowding, Facial asymmetry, Micrognathia, Brachycephaly, Cleft palate, Oligodon... ORPHA:251019
Keipert Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Short hallux, Aplasia/Hypoplasia of the dist... ORPHA:2662
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ... OMIM:601216
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti OMIM:607903
8Q22.1 Microdeletion Syndrome
Underfolded helix, Abnormal pinna morphology, Craniosynostosis, Short neck, Hypoplasia of the max... ORPHA:178303
17Q21.31 Microduplication Syndrome
Micrognathia, Abnormality of the dentition, High palate, Short philtrum, Malar flattening, Abnorm... ORPHA:217340
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Sparse hair, Reduced terminal:vellus ratio, Pili torti OMIM:601553
Rubinstein-Taybi Syndrome 2
Posteriorly rotated ears, Intestinal malrotation, Micrognathia, Carious teeth, Talon cusp, Dental... OMIM:613684
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Fine hair ORPHA:1174
Mohr Syndrome
Short palm, Median cleft lip, Wormian bones, Accessory oral frenulum, Micrognathia, Hypoplasia of... OMIM:252100
Apert Syndrome
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hypoplasia of the maxilla, Co... ORPHA:87
Mullegama-Klein-Martinez Syndrome
Preauricular pit, Thin upper lip vermilion, Frontal bossing, Triangular face, Facial palsy, Micro... OMIM:301022
Porphyria Cutanea Tarda
Facial hypertrichosis, Alopecia, Hyperpigmentation in sun-exposed areas, Onycholysis OMIM:176100
Crisponi/Cold-Induced Sweating Syndrome 1
Large face, Short palm, Facial palsy, Micrognathia, Carious teeth, Narrow mouth, Trismus, Short n... OMIM:272430
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus, Death in childhood OMIM:200900
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Hyperpigmentation of the skin, Hypopigmented skin patches, Fingernail dysplasia, Sparse... ORPHA:2251
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Micrognathia, Capitate-hamate fusion, Radial head subluxation, Short toe, Cleft... OMIM:614078
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Oculoauriculovertebral Spectrum With Radial Defects
Preauricular pit, Aplasia/Hypoplasia of the thumb, Abnormality of the middle ear ossicles, Preaur... ORPHA:2549
Periventricular Nodular Heterotopia 7
Microretrognathia, Optic disc pallor, Round face, Contracture of the proximal interphalangeal joi... OMIM:617201
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Tongue atrophy, Dental malocclusion, Horner syndrome, Microtia, Hemifa... OMIM:141300
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Frontal bossing, Abnormal dental enamel morphology, Cleft palate, Hypoplasia of the zygomatic bon... ORPHA:1812
Pseudopelade Of Brocq
Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi... ORPHA:129
Hypomandibular Faciocranial Dysostosis
Midface retrusion, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Optic disc coloboma, Brach... ORPHA:1790
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Brittle hair OMIM:618546
Van Maldergem Syndrome 1
Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathia, Hypoplasi... OMIM:601390
Lambert Syndrome
Wide mouth, Malar flattening, Branchial anomaly, Preauricular skin tag ORPHA:1296
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Microretrognathia, Posteriorly rotated ears, Abnormal pinna morphology, Hypoplasia of the maxilla... ORPHA:228396
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Microretrognathia, Mandibular prognathia, Frontal bossing, Turricephaly, Aganglionic megacolon, P... OMIM:613603
Distal Deletion 1Q
Round face, Micrognathia, Thin vermilion border, Low-set ears, Smooth philtrum ORPHA:36367
Pycnodysostosis
Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma... ORPHA:763
Ectodermal Dysplasia 9, Hair/Nail Type
Concave nail, Absent eyelashes, Nail dystrophy, Atrichia, Nail dysplasia, Sparse hair, Absent hair OMIM:614931
Andersen Cardiodysrhythmic Periodic Paralysis
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... OMIM:170390
Cranioectodermal Dysplasia
Frontal bossing, Rhizomelia, Abnormal dental enamel morphology, Craniosynostosis, Abnormality of ... ORPHA:1515
Carpenter Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Short neck, Brachycephaly, High palate, Conductive heari... OMIM:201000
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Prolidase Deficiency
Micrognathia, Carious teeth, Genu valgum, Abnormal facial shape, Hypoplasia of the zygomatic bone... ORPHA:742
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Anonychia With Flexural Pigmentation
Hypermelanotic macule, Abnormal hair morphology, Axillary and groin hyperpigmentation and hypopig... ORPHA:69125
Leopard Syndrome 2
Curly hair, Cafe-au-lait spot, Multiple lentigines OMIM:611554
Hypoglossia With Situs Inversus
Micrognathia, High palate, Hypodontia, Low-set ears, Narrow mouth, Microglossia OMIM:612776
Momo Syndrome
Delayed eruption of teeth, Frontal bossing, Underfolded helix, Short neck, Thick lower lip vermil... OMIM:157980
Oliver-Mcfarlane Syndrome
Alopecia, Central heterochromia, Long eyebrows, Pigmentary retinopathy, Long eyelashes, Sparse hair OMIM:275400
Hypodontia-Dysplasia Of Nails Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Thin toenail, Ridged fingernail,... ORPHA:2228
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Hyperpigmentati... OMIM:104100
Lowry-Maclean Syndrome
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, ... ORPHA:2409
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Crowded maxillary incisors, Hypoplasia of the maxilla, Mandibular prognathia ORPHA:397973
Frontoocular Syndrome
Posteriorly rotated ears, Micrognathia, Narrow philtrum, High palate, Low-set ears, Narrow mouth,... OMIM:605321
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Conical tooth, Diastema, Hypoplasia of the maxilla, Genu valgum, Short p... OMIM:619142
Intellectual Developmental Disorder, Autosomal Dominant 26
Micrognathia, Deep philtrum, Brachycephaly, Wide mouth, Short philtrum, Thick vermilion border, L... OMIM:615834
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Facial asymmetry, Short neck, Micromelia, Optic atrophy, Brachycephaly, Thin vermilion border, Hy... OMIM:614800
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Microcephaly-Capillary Malformation Syndrome
Hypoplasia of the maxilla, Optic atrophy, Simplified gyral pattern, Cleft palate, Low-set ears, S... OMIM:614261
Intellectual Developmental Disorder, Autosomal Dominant 21
Posteriorly rotated ears, Narrow mouth, Cleft palate, Thin vermilion border, Low-set ears, Long p... OMIM:615502
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Anhidrosis, Dystrophic toenail OMIM:619209
Moynahan Syndrome
Sparse hair, Alopecia ORPHA:2574
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies
Thin upper lip vermilion, Micrognathia, Short 5th finger, Low-set ears, Tooth malposition, Hearin... OMIM:618608
Warburg Micro Syndrome 1
Micrognathia, Perisylvian polymicrogyria, Optic atrophy, Thin vermilion border, Low-set ears, Nar... OMIM:600118
Intellectual Developmental Disorder, Autosomal Dominant 70
Mandibular prognathia, Long face, Optic nerve hypoplasia, Micrognathia, Hypoplasia of the maxilla... OMIM:620157
Jackson-Weiss Syndrome
Mandibular prognathia, Frontal bossing, Turricephaly, Hypoplasia of the maxilla, Short metatarsal... ORPHA:1540
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... OMIM:613573
Saethre-Chotzen Syndrome
Proximal radio-ulnar synostosis, Craniosynostosis, Facial asymmetry, Open bite, Hypoplasia of the... ORPHA:794
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... OMIM:129500
Arthrogryposis, Distal, Type 2B1
Mandibular prognathia, Ulnar deviation of the wrist, Camptodactyly of finger, Micrognathia, Abnor... OMIM:601680
Trisomy 18P
Abnormal pinna morphology, Facial palsy, Micrognathia, High, narrow palate, Pyloric stenosis, Thi... ORPHA:1715
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... OMIM:619924
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Brachycephaly, ... ORPHA:439822
Ataxia, Deafness, And Cardiomyopathy
Sensorineural hearing impairment OMIM:208750
Tricho-Dento-Osseous Syndrome
Frontal bossing, Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesi... ORPHA:3352
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Curly hair, Sparse eyelashes, Hyperhidrosis, Cafe-au-lait spot, Multiple lentigin... OMIM:615280
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Orofaciodigital Syndrome Xix
Frontal bossing, Underfolded helix, Cleft soft palate, Accessory oral frenulum, Dolichocephaly, C... OMIM:620107
Branchiootic Syndrome 1
Preauricular pit, Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal,... OMIM:602588
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Abnormal fingernail morphology, Supernumerary nipple, Bifid ... ORPHA:1433
Burn-Mckeown Syndrome
Mandibular prognathia, Cleft upper lip, Micrognathia, Cleft palate, Protruding ear, Thin vermilio... OMIM:608572
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Renpenning Syndrome
Mandibular prognathia, Narrow face, Macrodontia, High, narrow palate, Sensorineural hearing impai... ORPHA:3242
Cortisone Reductase Deficiency 1
Alopecia, Hirsutism OMIM:604931
Acrodysostosis
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Micro... ORPHA:950
Axenfeld-Rieger Syndrome
Anal stenosis, Hypoplasia of the maxilla, Everted lower lip vermilion, Hypodontia, Microdontia, M... ORPHA:782
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Micrognathia, Short thumb, Hypoplasia of the radius, Fibular hypoplasia, ... OMIM:227270
Robin Sequence-Oligodactyly Syndrome
Narrow face, Micrognathia, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Glossop... ORPHA:3104
Snijders Blok-Campeau Syndrome
Frontal bossing, Taurodontia, High palate, Widely spaced teeth, Low-set ears, Umbilical hernia, E... OMIM:618205
Chromosome 22Q11.2 Duplication Syndrome
Abnormal pinna morphology, Micrognathia, Velopharyngeal insufficiency, High palate, Low-set ears OMIM:608363
Cardiofaciocutaneous Syndrome 3
Curly hair, Hyperhidrosis OMIM:615279
Isolated Congenital Hypoglossia/Aglossia
Micrognathia, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of fingers, Cleft palate, Mic... ORPHA:141152
Treacher Collins Syndrome 4
Micrognathia, Cleft palate, Conductive hearing impairment, Malar flattening, Facial asymmetry OMIM:618939
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Malar flattening, Hypoplasia of the zygomatic bone ORPHA:2835
Coffin-Lowry Syndrome
Hypoplasia of the maxilla, Protruding ear, High palate, Widely spaced teeth, Advanced eruption of... ORPHA:192
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Micrognathia, Sensorineural hearing impairment, Osteoarthritis, Cleft palate, Glossoptosis, Long ... ORPHA:166100
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Melanocytic nevus, Fine hair, Freckling, Pili torti ORPHA:1573
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Acrocraniofacial Dysostosis
Low-set, posteriorly rotated ears, Preauricular pit, Turricephaly, Abnormal pinna morphology, Cra... ORPHA:949
Frontorhiny
Encephalocele, Low-set, posteriorly rotated ears, Camptodactyly of finger, Hypoplasia of the maxi... ORPHA:391474
Edinburgh Malformation Syndrome
Frontal bossing, Micrognathia, Abnormality of neuronal migration, Low posterior hairline, Downtur... ORPHA:1895
Deafness, X-Linked 5, With Peripheral Neuropathy
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... OMIM:300614
Auriculocondylar Syndrome 3
Micrognathia, Question mark ear, Full cheeks, Glossoptosis, Bilateral conductive hearing impairme... OMIM:615706
Atkin-Flaitz Syndrome
Coarse facial features, Abnormality of the dentition, Thick vermilion border, Everted lower lip v... ORPHA:1193
Hypertelorism, Microtia, Facial Clefting Syndrome
Micrognathia, Cleft upper lip, Cleft palate, Microtia, Short 5th finger, Atresia of the external ... OMIM:239800
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Eosinophilia, Neutropenia OMIM:257100
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Hypoplasia of the maxilla, Sensorineural hearing impairment, Genu valgum, Disharmonious carpal bo... OMIM:608154
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... ORPHA:2325
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Hypoplasia of the maxilla, Sensorineural hearing impairment,... OMIM:109120
Mesomelia-Synostoses Syndrome
Abnormality of the knee, Micromelia, Micrognathia, Aplasia/Hypoplasia of the uvula, High, narrow ... ORPHA:2496
Hawkinsinuria
Sparse hair, Fine hair ORPHA:2118
Multicentric Carpotarsal Osteolysis Syndrome
Ankle swelling, Micrognathia, Hypoplasia of the maxilla, Wrist swelling, Carpal osteolysis, Bilat... OMIM:166300
Autism Spectrum Disorder Due To Auts2 Deficiency
Micrognathia, Periauricular skin pits, Joint contracture of the hand, Short philtrum, Joint contr... ORPHA:352490
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231183
Van Maldergem Syndrome 2
Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathia, Hypoplasi... OMIM:615546
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Anal stenosis, Hypoplasia of the maxilla, Everted lower lip vermilion, Sho... OMIM:601499
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen... ORPHA:2890
Cohen Syndrome
Short metacarpal, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Cubitus valgus, O... OMIM:216550
Taurodontism
Taurodontia OMIM:272700
Meier-Gorlin Syndrome 5
Prominent metopic ridge, Micrognathia, Hypoplasia of the maxilla, Elbow dislocation, Submucous cl... OMIM:613805
Meier-Gorlin Syndrome 4
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Thick lower lip vermilion, Patellar apl... OMIM:613804
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... ORPHA:113
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Hearing abnorm... ORPHA:2412
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies
Thin upper lip vermilion, Small hand, Micrognathia, Narrow mouth OMIM:617755
Rapp-Hodgkin Syndrome
Cleft upper lip, Conical tooth, Carious teeth, Velopharyngeal insufficiency, Small, conical teeth... OMIM:129400
Intellectual Developmental Disorder, Autosomal Dominant 34
Curly hair, Synophrys, Coarse hair OMIM:616351
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Skraban-Deardorff Syndrome
Coarse facial features, Micrognathia, Absent cupid's bow, Cleft palate, Full cheeks, Widely space... OMIM:617616
Onychotrichodysplasia And Neutropenia
Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo... OMIM:258360
Acrofacial Dysostosis, Cincinnati Type
Micrognathia, Hypoplasia of the maxilla, Macrotia, Cleft palate, Anotia, Microtia, Acetabular dys... OMIM:616462
Hajdu-Cheney Syndrome
Micrognathia, Absent frontal sinuses, Short neck, Downturned corners of mouth, Periodontitis, Abn... ORPHA:955
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal dental enamel morphology, Elbow dislocation, Aplasia/Hypoplasia of the middle ear, Atres... ORPHA:3236
Cleidocranial Dysplasia 2
Delayed eruption of primary teeth, Aplastic clavicle, Hypoplasia of the maxilla, Supernumerary to... OMIM:620099
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Facial palsy, Protruding ear, Facial diplegia, High palate, Narrow mouth, Abnorm... ORPHA:169186
Pseudohermaphroditism, Female, With Skeletal Anomalies
Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head dislocation OMIM:264270
Smith-Magenis Syndrome
Mandibular prognathia, Large face, Frontal bossing, Tented upper lip vermilion, Delayed eruption ... ORPHA:819
Gorlin-Chaudhry-Moss Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Brachycephaly, Oligodontia, Conductive h... ORPHA:2095
Split-Foot Deformity With Mandibulofacial Dysostosis
Malar flattening, Abnormality of the ear, Cleft palate, Micrognathia OMIM:183700
Orofaciodigital Syndrome Type 1
Micrognathia, Lobulated tongue, High palate, Chronic otitis media, Abnormal dental enamel morphol... ORPHA:2750
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Hypoplasia of the maxilla, Hip dislocation, Protruding ear, Increased laxity of ankles, Thin verm... ORPHA:481152
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Posteriorly rotated ears, Short neck, Micrognathia, High palate, Low-set ears, ... OMIM:618393
Lethal Osteosclerotic Bone Dysplasia
Posteriorly rotated ears, Micrognathia, Short neck, Gingival fibromatosis, Gingival overgrowth, L... ORPHA:1832
Ayme-Gripp Syndrome
Smooth philtrum, Thin upper lip vermilion, Mandibular prognathia, Posteriorly rotated ears, Delay... OMIM:601088
Noonan Syndrome 6
Curly hair, Long eyebrows, Low posterior hairline, Multiple lentigines, Sparse hair, Cafe-au-lait... OMIM:613224
48,Xxxy Syndrome
Delayed eruption of teeth, Mandibular prognathia, Abnormal dental enamel morphology, Short neck, ... ORPHA:96263
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Death in infancy, Autoimmune thrombocytopenia, Sple... OMIM:617514
Cardiofaciocutaneous Syndrome
Low-set, posteriorly rotated ears, Frontal bossing, Coarse facial features, Short neck, Submucous... ORPHA:1340
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Selective tooth agenesis, Cleft upper lip, Conical tooth, Hypoplasia of the maxilla, Oval face, C... OMIM:106260
Momo Syndrome
Delayed eruption of teeth, Frontal bossing, Underfolded helix, Short neck, Thick lower lip vermil... ORPHA:2563
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... OMIM:303110
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Frontal bossing, Narrow face, Hearing impairment, Micrognathia, Short neck, Macrotia, Narrow pala... OMIM:620250
Lateral Meningocele Syndrome
Narrow face, Dental crowding, Micrognathia, Short neck, High, narrow palate, High palate, Conduct... ORPHA:2789
Cerebrooculofacioskeletal Syndrome 3
Low-set ears, Cleft palate, Micrognathia OMIM:616570
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Thin upper lip vermilion, Narrow face, Frontal bossing, Dental crowding, Micrognathia, Hypoplasia... OMIM:309520
Agnathia-Otocephaly Complex
Micrognathia, Conductive hearing impairment, Aglossia, Cleft palate, Low-set ears, Narrow mouth, ... OMIM:202650
Distal Xq28 Microduplication Syndrome
Short lingual frenulum, Dental crowding, Hypoplasia of the maxilla, Thick lower lip vermilion, Mi... ORPHA:293939
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Cataract-Intellectual Disability-Hypogonadism Syndrome
Low-set, posteriorly rotated ears, Micrognathia, Brachycephaly, Furrowed tongue, Low posterior ha... ORPHA:1387
Mosaic Trisomy 14
Low-set, posteriorly rotated ears, Frontal bossing, Camptodactyly of finger, Micrognathia, Short ... ORPHA:1703
Temtamy Preaxial Brachydactyly Syndrome
Carpal synostosis, Short metacarpal, Tarsal synostosis, Diastema, Deep philtrum, Talon cusp, Opti... OMIM:605282
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... ORPHA:90368
Aase-Smith Syndrome
Abnormal pinna morphology, Camptodactyly of finger, Trismus, Cleft palate, Aplasia/Hypoplasia of ... ORPHA:916
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Micrognathia, Mesomelic arm shortening, Cleft palate, Mesomelic leg shor... OMIM:249710
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Micrognathia, Pyloric stenosis, Small hand, Cleft palate, Full cheeks, Short foot, High palate, S... ORPHA:96184
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Thin upper lip vermilion, Hypoplasia of the zygomatic bone, Short distal phalanx of finger, Genu ... ORPHA:1295
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Optic disc pallor, Uplifted earlobe, Optic atrophy, Protruding ear, Wide mouth, Prominent antihel... OMIM:615722
Usher Syndrome Type 1
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231169
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features
Microretrognathia, Frontal bossing, Abnormal pinna morphology, Abnormal cortical gyration, Multip... OMIM:177980
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618987
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... ORPHA:90646
Myopathy, Centronuclear, 5
Hip contracture, Micrognathia, High palate, Narrow mouth, Retrognathia, Bifid uvula OMIM:615959
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short distal phalanx of toe, Coarse facial features, Micrognathia, Delayed eruption of permanent ... OMIM:619356
Andersen-Tawil Syndrome
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence of primary te... ORPHA:37553
Aredyld Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Low-set, posteriorly rotated ears, Abnormal den... ORPHA:1133
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Mandibular prognathia, Thin upper lip vermilion, Branchial cyst, Dental crowding, Ankle flexion c... ORPHA:435938
Hemifacial Microsomia With Radial Defects
Preauricular pit, Hemifacial hypoplasia, Preauricular skin tag, Non-midline cleft lip, Cleft pala... OMIM:141400
Intellectual Developmental Disorder, Autosomal Recessive 69
Hyperplasia of the maxilla OMIM:618383
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Frontal bossing, Carious teeth, Hypoplasia of the maxilla, Hypoplasia ... ORPHA:50814
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Multiple pterygia, Micrognathia OMIM:601809
Branchiootorenal Syndrome 1
Branchial cyst, Narrow face, Congenital hip dislocation, High palate, Conductive hearing impairme... OMIM:113650
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla, Short distal phalanx of finger OMIM:300266
Cog7-Cdg
Micrognathia, Short neck, Narrow mouth, Abnormal facial shape, Retrognathia ORPHA:79333
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dystrophy, Alopecia totalis, Nail dysplasia OMIM:212360
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Frontal bossing, Micrognathia, Optic atrophy, Dolichocephaly, Orbital craniosynostosis ORPHA:1538
Simosa Craniofacial Syndrome
Posteriorly rotated ears, Abnormal pinna morphology, High, narrow palate, Narrow mouth, Hearing a... OMIM:182150
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Thin upper lip vermilion, Micrognathia, Diastema, Hypoplasia of the maxill... OMIM:300534
Leopard Syndrome 3
Few cafe-au-lait spots, Curly hair, Multiple lentigines, Low posterior hairline OMIM:613707
Cowden Syndrome 5
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... OMIM:615108
Pancreatic Agenesis-Holoprosencephaly Syndrome
Abnormal pinna morphology, Prominent occiput, Hypoplasia of the zygomatic bone, High palate, Low-... ORPHA:556955
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Preauricular pit, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Microg... OMIM:602471
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Narrow face, Short philtrum, Lower limb undergrowth, Conductive hea... OMIM:186500
Nance-Horan Syndrome
Narrow face, Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incis... OMIM:302350
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt... OMIM:615513
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Sparse hair, Pigmentary retinopathy, Alopecia, Long eyelashes ORPHA:3363
Catifa Syndrome
Delayed eruption of teeth, Cleft lip, Cleft palate, Microtia, Increased overbite, Long philtrum, ... OMIM:618761
Trichothiodystrophy 2, Photosensitive
Coarse hair, Tiger tail banding OMIM:616390
Noonan Syndrome 9
Sparse eyebrow, Curly hair OMIM:616559
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair OMIM:256850
49,Xxxxy Syndrome
Delayed eruption of teeth, Mandibular prognathia, Abnormal dental enamel morphology, Short neck, ... ORPHA:96264
Palmoplantar Keratoderma-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2202
Ectodermal Dysplasia 13, Hair/Tooth Type
Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow OMIM:617392
Nablus Mask-Like Facial Syndrome
Thin upper lip vermilion, Frontal bossing, Posteriorly rotated ears, Craniosynostosis, Abnormalit... OMIM:608156
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... OMIM:225060
Aarskog-Scott Syndrome
Round face, Cleft upper lip, Hypoplasia of the maxilla, Short neck, Hypoplasia of the odontoid pr... OMIM:305400
Distal Monosomy 7Q36
Large face, Short neck, Micrognathia, Non-midline cleft lip, Optic atrophy, Cleft palate, Full ch... ORPHA:1636
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia OMIM:242510
Distal Deletion 19P
Low-set, posteriorly rotated ears, Hypoplasia of the maxilla, Sensorineural hearing impairment, C... ORPHA:96129
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Cranioectodermal Dysplasia 4
Frontal bossing, Sagittal craniosynostosis, Protruding ear, Full cheeks, Thin vermilion border, T... OMIM:614378
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Frontal bossing, Coarse facial features, Genu recurvatum, Thick... OMIM:300602
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Curly hair, Curly eyelashes, Multiple rows of eyelashes, Low posterior hairline, Nail dysplasia, ... ORPHA:163654
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Exaggerated cupid's bow, Posteriorly rotated ears, Wide mouth, Delayed eruption of permanent teet... OMIM:618506
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Mandibular prognathia, Square face, Thick lower lip vermilion, Brachycephaly, Wide mouth, Thick u... OMIM:309545
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... ORPHA:705
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Cupped ear, Low-set ears, Dolichocephaly OMIM:167730
Baraitser-Winter Syndrome 2
Thin upper lip vermilion, Abnormal pinna morphology, Short neck, Pachygyria, Orofacial cleft, Web... OMIM:614583
Noonan Syndrome 5
Curly hair, Sparse eyebrow, Fine hair, Multiple lentigines, Small nail, Cafe-au-lait spot OMIM:611553
Verheij Syndrome
Branchial cyst, Thin upper lip vermilion, Vertebral fusion, Square face, Optic nerve hypoplasia, ... OMIM:615583
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Congenital stapes ankylosis, Proximal/middle symphalangism of 5th finger, Limit... OMIM:184460
Arthrogryposis, Distal, Type 1A
Hip contracture, Congenital hip dislocation, Trismus, Narrow mouth, Sensorineural hearing impairm... OMIM:108120
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... OMIM:212050
Ohdo Syndrome
Hearing impairment, Micrognathia, Hypoplasia of teeth, Thin vermilion border, Widely spaced teeth... OMIM:249620
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Dysmorphism-Cleft Palate-Loose Skin Syndrome
Thickened nuchal skin fold, Narrow face, Micrognathia, Cleft palate, Trigonocephaly, Long face ORPHA:1779
Epidermolysis Bullosa, Junctional 5A, Intermediate
Absent pubic hair, Nail dystrophy, Absent axillary hair, Onycholysis of distal fingernails, Alope... OMIM:619816
Schinzel-Giedion Syndrome
Micrognathia, Short neck, Abnormality of the gingiva, Anteriorly placed anus, High palate, Short ... ORPHA:798
Lambotte Syndrome
Macrotia, Retrognathia, Atresia of the external auditory canal, Narrow mouth OMIM:245552
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Narrow face, Gingival overgrowth, Everted l... OMIM:614753
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Narrow mouth, Mandibular aplasia, Synotia, Microglossia, Narro... ORPHA:990
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Yellow-brown discoloration of the te... ORPHA:83450
Cowden Syndrome 6
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... OMIM:615109
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Carious teeth, Thick lower lip vermilion, Narrow palate, Narrow mouth ORPHA:457365
7Q31 Microdeletion Syndrome
Torticollis, Hypoplasia of the maxilla, Hypoplasia of the cochlea, Wide mouth, Plagiocephaly, Hyp... ORPHA:251061
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Pfeiffer Syndrome
Mandibular prognathia, Shortening of all middle phalanges of the fingers, Cloverleaf skull, Denta... OMIM:101600
Deafness, Autosomal Dominant 50
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... OMIM:613074
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Preauricular pit, Abnormal pinna mor... ORPHA:50815
Holoprosencephaly
Flat occiput, Short neck, Deep philtrum, Abnormal facial shape, Encephalocele, Bilateral cleft li... ORPHA:2162
Distal Duplication 6P
Frontal bossing, Micrognathia, Short neck, Aplasia/Hypoplasia of the earlobes, Abnormal antitragu... ORPHA:1745
Otopalatodigital Syndrome, Type I
Selective tooth agenesis, Absent frontal sinuses, Conductive hearing impairment, Short 5th metaca... OMIM:311300
Orofaciodigital Syndrome Type 2
Micrognathia, Protruding ear, High palate, Conductive hearing impairment, Short tibia, Hamartoma ... ORPHA:2751
Trisomy 17P
Prominent metopic ridge, Coarse facial features, Micrognathia, Short neck, Orofacial cleft, Cleft... ORPHA:261290
Symphalangism, Proximal, 1A
Carpal synostosis, Stapes ankylosis, Tarsal synostosis, Metacarpophalangeal synostosis, Aplasia/H... OMIM:185800
Holoprosencephaly 9
Hypoplasia of the premaxilla, Optic nerve hypoplasia, Cleft upper lip, Hypoplasia of the maxilla,... OMIM:610829
Fetal Akinesia Deformation Sequence 2
Tented upper lip vermilion, Micrognathia, Cleft palate, High palate, Low-set ears, Broad neck OMIM:618388
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Xq28 (MECP2) duplication
Malar flattening, Macrotia, Brachycephaly, Narrow mouth DECIPHER:45
Congenital Disorder Of Glycosylation, Type Iy
Joint dislocation, Micrognathia, Wide mouth, Widely spaced teeth, Macrotia OMIM:300934
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Nail dysplasia OMIM:615704
Branchioskeletogenital Syndrome
Mandibular prognathia, Attached earlobe, Abnormal midface morphology, Short neck, Hypoplasia of t... ORPHA:1299
Bazex-Dupre-Christol Syndrome
Hyperpigmentation of the skin, Hypohidrosis, Coarse hair, Sparse hair, Trichoepithelioma, Pili to... OMIM:301845
Neutropenia-Monocytopenia-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2690
Bardet-Biedl Syndrome 7
Malar flattening, Narrow mouth OMIM:615984
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Sensorineural hearing impairment, Prominent occiput, Microtia, Hypoplasia of the zygomatic bone, ... OMIM:618500
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Conductive hearing impairment, Velopharyngeal insufficiency, No... ORPHA:199302
Braddock-Carey Syndrome 2
Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the external auditory canal, Retrogna... OMIM:619981
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair ORPHA:2985
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Low-set, posteriorly rotated ears, Camptodactyly of finger, Elbow dislocation, Cleft palate, Thin... ORPHA:2631
Immunodeficiency 104
Splenomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Cleft Palate-Large Ears-Small Head Syndrome
Micrognathia, Gingival overgrowth, Cleft palate, Protruding ear, Elfin facies, Macrotia, Short di... ORPHA:2013
Crisponi Syndrome
Large face, Camptodactyly of finger, Micrognathia, Narrow mouth, Full cheeks, High palate, Long p... ORPHA:1545
Martsolf Syndrome 1
Short palm, Short metacarpal, Posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, ... OMIM:212720
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Micrognathia, Conical tooth, Anteverted ears, Aplasia of the inner ear, Widely spaced teeth, Micr... OMIM:610706
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Posteriorly rotated ears, Micrognathia, Fibular hypoplasia, High palate, Short ... OMIM:201170
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Weaver-Williams Syndrome
Protruding ear, Cleft palate, Narrow mouth ORPHA:3448
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Sparse hair, Curly hair, Synophrys, Sparse eyebrow OMIM:620075
Multiple Pterygium-Malignant Hyperthermia Syndrome
Congenital muscular torticollis, Webbed neck, Downturned corners of mouth, Conductive hearing imp... ORPHA:2215
Angelman Syndrome
Mandibular prognathia, Flat occiput, Protruding tongue, Hypoplasia of the maxilla, Brachycephaly,... OMIM:105830
Epidermolysis Bullosa, Junctional 1A, Intermediate
Patchy alopecia, Nail dystrophy, Fragile nails, Palmar hyperhidrosis OMIM:226650
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Small hand, Cleft palate, Short foot, Malar flattening, Midface retrusion OMIM:300261
Carey-Fineman-Ziter Syndrome 2
Thin upper lip vermilion, Dental crowding, Posteriorly rotated ears, Micrognathia, High, narrow p... OMIM:619941
Flynn-Aird Syndrome
Alopecia, Alopecia of scalp OMIM:136300
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Delayed eruption of teeth, Macrodontia, High, narrow palate, Sensorineural hearing impairment, Ta... ORPHA:3214
Liang-Wang Syndrome
Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi... OMIM:618729
17P13.3 Microduplication Syndrome
Frontal bossing, Congenital hip dislocation, Short neck, High palate, Low-set ears, Narrow mouth ORPHA:217385
Acrodysostosis 1 With Or Without Hormone Resistance
Delayed eruption of teeth, Mandibular prognathia, Short metacarpal, Hypoplasia of the maxilla, De... OMIM:101800
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development
Thickened nuchal skin fold, Round face, Redundant neck skin, Posteriorly rotated ears, Trigonocep... OMIM:604314
Ablepharon Macrostomia Syndrome
Camptodactyly of finger, Hypoplasia of the maxilla, Wide mouth, Thin vermilion border, Hypoplasia... ORPHA:920
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Abnormality of retinal pigmentation, Sparse hair ORPHA:1264
Raine Syndrome
Mandibular prognathia, Micromelia, Micrognathia, Short neck, Brachycephaly, Protruding ear, High ... OMIM:259775
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus
Open bite, Dental crowding, Hyperplasia of the maxilla OMIM:613671
Filippi Syndrome
Optic atrophy, Thin vermilion border, Short philtrum, Hypodontia, Microdontia, Serrated incisors OMIM:272440
Elsahy-Waters Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Brachycephaly, Anteriorly placed anus, High pal... OMIM:211380
Ck Syndrome
Narrow face, Dental crowding, Posteriorly rotated ears, Micrognathia, Pachygyria, High palate, Ma... OMIM:300831
Braddock-Carey Syndrome 1
Sparse hair, Curly hair OMIM:619980
Non-Distal Duplication 10Q
Low-set, posteriorly rotated ears, Frontal bossing, Micrognathia, Brachycephaly, Everted lower li... ORPHA:1695
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Posteriorly rotated ears, Micromelia, Micrognathia, Calvarial skull defe... OMIM:224410
Cerebrofacioarticular Syndrome
Irregular dentition, Anal stenosis, Micrognathia, Hypoplasia of the maxilla, Anteriorly placed an... ORPHA:314679
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Mandibular prognathia, Frontal bossing, Tented upper lip vermilion, Exaggerated cupid's bow, Post... OMIM:619720
Congenital Arthrogryposis With Anterior Horn Cell Disease
Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Short neck, Micrognathia, F... OMIM:611890
Microcephaly-Micromelia Syndrome
Craniosynostosis, Micrognathia, Short neck, Micromelia, Absent thumb, Humeroradial synostosis, Ab... OMIM:251230
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Sensorineural hearing impairment, Pierre-Robin sequence, Premature osteoarthritis, Cleft palate, ... OMIM:184840
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Torticollis, Abnormal mandible morphology, Cleft palate OMIM:217150
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Barber-Say Syndrome
Delayed eruption of teeth, Mandibular prognathia, Extra concha fold, Micrognathia, Hypoplasia of ... OMIM:209885
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Sensorineural hearing impairment, Gingival fibromatosis, Gingival over... ORPHA:2027
Van Den Ende-Gupta Syndrome
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Protruding ear, Kn... OMIM:600920
Chromosome 4Q21 Deletion Syndrome
Frontal bossing, Dolichocephaly, Narrow mouth, Sensorineural hearing impairment, Downturned corne... OMIM:613509
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Exaggerated cupid's bow, Micrognathia, Narrow mouth, Prominent ear helix, Short toe, Wide mouth, ... OMIM:618659
Cutis Laxa, Autosomal Recessive, Type Iia
Frontal bossing, Congenital hip dislocation, Carious teeth, Narrow mouth, Polymicrogyria, Flat fa... OMIM:219200
Kagami-Ogata Syndrome
Frontal bossing, Micrognathia, Hypoplasia of the maxilla, Microtia, Long philtrum, Limb undergrow... OMIM:608149
Ear-Patella-Short Stature Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Anotia, Bifid uvula, Microtia, thir... ORPHA:2554
Fibrodysplasia Ossificans Progressiva
Alopecia ORPHA:337
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Frontal bossing, Craniosynostosis, Micrognathia, Short neck, Dolichocephaly, Stenosis of the exte... ORPHA:1516
Amaurosis-Hypertrichosis Syndrome
Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow ORPHA:1021
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri... OMIM:117850
Alazami Syndrome
Wide mouth, Thick vermilion border, Short philtrum, Widely spaced teeth, Low-set ears, Malar flat... OMIM:615071
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Short thumb, Hypoplasia of the radius, Fibular hypopla... ORPHA:1972
Shprintzen-Goldberg Craniosynostosis Syndrome
Frontal bossing, Posteriorly rotated ears, Abnormal pinna morphology, Genu recurvatum, Micrognath... OMIM:182212
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Thin upper lip vermilion, Micrognathia, Optic atrophy,... OMIM:615419
Erythrokeratodermia Variabilis
Alopecia, Hypermelanotic macule, Abnormal hair morphology, Abnormality of the nail, Irregular hyp... ORPHA:317
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:312863
Nemaline Myopathy 9
High palate, Cleft palate, Micrognathia OMIM:615731
Deafness, Progressive, With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment OMIM:601449
Progressive Deafness With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment ORPHA:3235
Lateral Meningocele Syndrome
Vertebral fusion, Wormian bones, Dental crowding, Posteriorly rotated ears, Micrognathia, Short n... OMIM:130720
Mosaic Trisomy 20
Vertebral fusion, Micrognathia, Cleft lip, Long neck, Limited pronation/supination of forearm, Cl... ORPHA:1724
17P11.2 Microduplication Syndrome
Low-set, posteriorly rotated ears, Abnormal dental morphology, Micrognathia, Open bite, Wide mout... ORPHA:1713
Noonan Syndrome
Thickened helices, Aplasia of the semicircular canal, Low-set, posteriorly rotated ears, Sensorin... ORPHA:648
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities
Mandibular prognathia, Thin upper lip vermilion, Protruding ear, Wide mouth, Everted lower lip ve... OMIM:619595
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Notched primary central incisor, Low-set ears OMIM:620062
Deafness, Autosomal Dominant 86
Abnormal vestibular function, Sensorineural hearing impairment, Tinnitus OMIM:620280
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Thin upper lip vermilion, Narrow face, Round face, Micrognathia, Short neck, Sensorineural hearin... ORPHA:391408
Zechi-Ceide Syndrome
Mandibular prognathia, Cleft lip, Postauricular skin tag, Short metatarsal, Abnormal earlobe morp... ORPHA:217017
Triploidy
Low-set, posteriorly rotated ears, Intestinal malrotation, Micrognathia, Short neck, Non-midline ... ORPHA:3376
Schilbach-Rott Syndrome
Posteriorly rotated ears, Micrognathia, Submucous cleft hard palate, Microtia, Narrow mouth, Bifi... OMIM:164220
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:2850
Congenital Disorder Of Glycosylation, Type Iig
Micrognathia, Short neck, Glossoptosis, High palate, Conductive hearing impairment, Rhizomelia, M... OMIM:611209
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Thin vermilion border, Micrognathia, Narrow mouth ORPHA:1046
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Abnormal pinna morphology, Intestinal malrotation, Micrognathia, Deep philtrum, Increased nuchal ... ORPHA:77300
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Micrognathia, Short foot, Microtia, High palate, Joint contracture of the 5th finger, Conductive ... OMIM:248910
Maternal Uniparental Disomy Of Chromosome 9
Facial asymmetry, Short neck, Micrognathia, Patellar dislocation, Low-set ears, Osteochondrosis, ... ORPHA:96183
19P13.3 Microduplication Syndrome
Posteriorly rotated ears, Micrognathia, Hip dislocation, Cleft palate, Microtia, Thick vermilion ... ORPHA:447980
Intellectual Disability And Myopathy Syndrome
Thin upper lip vermilion, Congenital hip dislocation, Dental malocclusion, Widely-spaced maxillar... OMIM:619719
Goldberg-Shprintzen Syndrome
Aganglionic megacolon, Short neck, Hypoplasia of the maxilla, Small hand, Oligodontia, Everted lo... OMIM:609460
Noonan Syndrome 8
Curly hair, Hyperpigmentation of the skin OMIM:615355
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Brachycephaly, Prominent crus of helix, Parietal foramina, Microtia, L... OMIM:101400
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Tooth agenesis, Mesomelia, Abnormal palate morphology, Micrognathia ORPHA:1277
Lowry-Maclean Syndrome
Delayed eruption of teeth, Craniosynostosis, Preauricular pit, Cleft palate OMIM:600252
19P13.13 Microdeletion Syndrome
Thin upper lip vermilion, Optic nerve hypoplasia, Dolichocephaly, Increased nuchal translucency, ... ORPHA:357001
Osteoglophonic Dysplasia
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,... OMIM:166250
Microphthalmia With Limb Anomalies
Micrognathia, Hypoplasia of the maxilla, Camptodactyly of 2nd-5th fingers, High palate, Foot olig... ORPHA:1106
Arthrogryposis, Distal, Type 5D
Tongue atrophy, Congenital hip dislocation, Round face, Limited elbow movement, Micrognathia, Sho... OMIM:615065
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati... OMIM:200990
Skin Creases, Congenital Symmetric Circumferential, 1
Posteriorly rotated ears, Micrognathia, Short neck, Narrow mouth, Brachycephaly, Cleft palate, Hi... OMIM:156610
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, To... ORPHA:2863
Insulin-Like Growth Factor I, Resistance To
Thin upper lip vermilion, Micrognathia, Small hand, Webbed neck, Short foot, High palate, Low-set... OMIM:270450
Glass Syndrome
Long face, Frontal bossing, Dental crowding, Posteriorly rotated ears, Conical tooth, Micrognathi... OMIM:612313
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Stickler Syndrome, Type Ii
Arthropathy, Micrognathia, High, narrow palate, Sensorineural hearing impairment, Pierre-Robin se... OMIM:604841
Shprintzen-Goldberg Syndrome
Frontal bossing, Posteriorly rotated ears, Camptodactyly of finger, Craniosynostosis, Micrognathi... ORPHA:2462
Syngap1-Related Developmental And Epileptic Encephalopathy
Abnormal tongue physiology, Anteverted ears, Wide mouth, Thin vermilion border, High palate, Narr... ORPHA:544254
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Brittle hair, Hyperpigmentation of the skin ORPHA:50812
Endocardial Fibroelastosis
Low-set, posteriorly rotated ears, Abnormal helix morphology, Abnormal palate morphology, Microgn... ORPHA:2022
Schwartz-Jampel Syndrome, Type 1
Pursed lips, Hip contracture, Congenital hip dislocation, Micromelia, Micrognathia, Short neck, D... OMIM:255800
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Mandibular prognathia, Thin upper lip vermilion, Frontal bossing, Scaphocephaly, Wide mouth, Low-... OMIM:619989
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Long face, Thin upper lip vermilion, Round face, Macrodontia, Micrognathia, Perisylvian polymicro... OMIM:618443
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Macrotia, High palate, Facial palsy, Micrognathia OMIM:608930
Sweeney-Cox Syndrome
Flat occiput, Uplifted earlobe, Micrognathia, Brachycephaly, High palate, Short philtrum, Median ... OMIM:617746
Legius Syndrome
Posteriorly rotated ears, Short neck, Micrognathia, High, narrow palate, Neurofibroma, Low poster... OMIM:611431
Myhre Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Midface retrusion, Short palm, Hypoplasia of th... ORPHA:2588
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Long face, Thin upper lip vermilion, Frontal bossing, Posteriorly rotated ears, Micrognathia, Pie... OMIM:613604
Oculodentodigital Dysplasia
Mandibular prognathia, Micrognathia, Abnormality of the ear, Conductive hearing impairment, Abnor... ORPHA:2710
Cowden Syndrome 1
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... OMIM:158350
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Woolly hair OMIM:611528
Fetal Minoxidil Syndrome
Low-set, posteriorly rotated ears, Umbilical hernia, Micrognathia ORPHA:1918
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Long face, Posteriorly rotated ears, Cleft lip, Small hand, Cleft palate, Downturned corners of m... OMIM:618089
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Axonal degeneration, Cleft palate, Brachial plexus neuropathy, Lo... OMIM:162100
Isotretinoin Syndrome
Micrognathia, Cleft palate, Microtia, Biparietal narrowing, Spina bifida occulta, Abnormality of ... ORPHA:2305
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Microretrognathia, Hip contracture, Round face, Hearing impairment, Microg... OMIM:618363
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Mandibular prognathia, Prominent metopic ridge, Cleft palate, Protruding ear, Short philtrum ORPHA:85317
X-Linked Intellectual Disability Due To Gria3 Mutations
Mandibular prognathia, Genu recurvatum, Uplifted earlobe, Brachycephaly, Narrow palate, Short upp... ORPHA:364028
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... OMIM:619846
Seckel Syndrome 5
11 pairs of ribs, Selective tooth agenesis, Abnormal cortical gyration, Micrognathia, Simplified ... OMIM:613823
Odontotrichoungual-Digital-Palmar Syndrome
Hypopigmentation of the skin, Nail dystrophy, Nail dysplasia, Abnormality of hair texture OMIM:601957
Facial Paresis, Hereditary Congenital, 3
Tented upper lip vermilion, Posteriorly rotated ears, Facial palsy, Micrognathia, Sensorineural h... OMIM:614744
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Frontal bossing, Flexion contracture of finger, Micrognathia, Hypoplas... OMIM:601812
3Q27.3 Microdeletion Syndrome
Mandibular prognathia, Thin upper lip vermilion, Dental crowding, Short philtrum, Low-set ears, N... ORPHA:397695
Arthrogryposis, Distal, Type 2A
Mandibular prognathia, Joint dislocation, Dental crowding, Short neck, Knee flexion contracture, ... OMIM:193700
Chromosome 1P35 Deletion Syndrome
Long face, Thin upper lip vermilion, Posteriorly rotated ears, Micrognathia, Sensorineural hearin... OMIM:617930
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Camptodactyly of finger, Facial asymmetry, Micrognathia, Narrow palate, Low posterior hairline, A... ORPHA:1323
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Thin upper lip vermilion, Coarse facial features, Low posterior hairline, ... ORPHA:2429
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Dental crowding, Persistence of primary teeth, Micrognathia, Sensorineural hearing impairment, Th... OMIM:618342
Chromosome 9P Deletion Syndrome
Thin upper lip vermilion, Posteriorly rotated ears, Micrognathia, Short neck, High, narrow palate... OMIM:158170
Microcephaly-Deafness-Intellectual Disability Syndrome
Micrognathia, Sensorineural hearing impairment, Cupped ear, Protruding ear, Everted lower lip ver... ORPHA:2533
Charge Syndrome
Narrow face, Hypoplasia of the semicircular canal, Low-set, posteriorly rotated ears, Facial pals... ORPHA:138
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Alopecia OMIM:203550
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Micrognathia, Sensorineural hearing impairment, Full cheeks, Downturned corners of mouth, Oligodo... OMIM:616817
Frank-Ter Haar Syndrome
Delayed eruption of teeth, Mandibular prognathia, Coarse facial features, Genu recurvatum, Campto... ORPHA:137834
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... OMIM:313500
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Noonan Syndrome 7
Hyperhidrosis, Curly hair, Low posterior hairline OMIM:613706
Keratoderma Hereditarium Mutilans
Alopecia, Abnormality of the nail, Abnormal toenail morphology ORPHA:494
Neuralgic Amyotrophy
Round face, Cleft palate, Narrow mouth ORPHA:2901
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Thin upper lip vermilion, Hyperplasia of the maxilla OMIM:618587
Meier-Gorlin Syndrome 1
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, High palate, Short palm, Microdontia, G... OMIM:224690
Meier-Gorlin Syndrome 3
Microretrognathia, Absent sternal ossification, Posteriorly rotated ears, Micrognathia, Hypoplasi... OMIM:613803
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Microretrognathia, Low-set, posteriorly rotated ears, Frontal bossing, Camptodactyly of finger, S... ORPHA:2994
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Cleft palate, High palate, Low-set ears, Malar flattening, Open mouth OMIM:620021
Idiopathic Trachyonychia
Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp... ORPHA:79153
Split Lower Lip
Abnormal lower lip morphology, Lower lip pit, Narrow maxilla, Abnormality of the dentition OMIM:183400
6Q25 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Camptodactyly of finger, Micrognath... ORPHA:251056
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Abnormality of cartilage of external ear, Cupped ear, Low-set ears, Do... ORPHA:2399
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Pursed lips, Micrognathia, Short neck, Brachycephaly, High palate, Low-set ears, Narrow mouth, Ma... ORPHA:562528
Basilar Impression, Primary
Short neck, Horner syndrome, Abnormal cervical myelogram, Platybasia, Craniofacial asymmetry OMIM:109500
Tonne-Kalscheuer Syndrome
Narrow face, Micrognathia, Velopharyngeal insufficiency, Downturned corners of mouth, Widely spac... OMIM:300978
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Round face, Deep philtrum, Full cheeks, Everted lower lip vermilion... OMIM:137550
Desmosterolosis
Low-set, posteriorly rotated ears, Frontal bossing, Intestinal malrotation, Abnormal cortical gyr... ORPHA:35107
Beare-Stevenson Cutis Gyrata Syndrome
Preauricular pit, Natal tooth, Midface retrusion, Redundant neck skin, Posteriorly rotated ears, ... OMIM:123790
Robin Sequence With Cleft Mandible And Limb Anomalies
Micrognathia, Aplasia of the epiglottis, Protruding ear, High palate, Short tibia, Bifid uvula, M... OMIM:268305
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
8Q21.11 Microdeletion Syndrome
Round face, Exaggerated cupid's bow, Camptodactyly of finger, Abnormality of the dentition, Micro... ORPHA:284160
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening, Sensorineural hearing impairment, Flat face OMIM:122880
Smith-Kingsmore Syndrome
Curly hair, Cafe-au-lait spot OMIM:616638
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Micrognathia, Short neck, Long neck, Cleft palate, Protruding ear, High palate, Low-set ears, Nar... OMIM:301091
8Q12 Microduplication Syndrome
Narrow mouth, Sensorineural hearing impairment, Brachycephaly, Short foot, Everted lower lip verm... ORPHA:228399
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Round face, Abnormal dental enamel morphology, Camptodactyly of finger, Abnormality of the dentit... ORPHA:3220
Peeling Skin Syndrome 1
Palmoplantar hyperhidrosis, Brittle hair, Onycholysis, Nail dystrophy OMIM:270300
Multicentric Osteolysis, Nodulosis, And Arthropathy
Delayed eruption of teeth, Hip contracture, Wide cranial sutures, Frontal bossing, Coarse facial ... OMIM:259600
Ravine Syndrome
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Anhidrosis, Brittle hair, Absent nipple, Hypohidrosis, Sparse hair, Absent hair OMIM:614940
Uruguay Faciocardiomusculoskeletal Syndrome
Congenital hip dislocation, Posteriorly rotated ears, Limited elbow movement, Joint contracture o... OMIM:300280
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Rectal prolapse, Conical incisor, Oligodontia, Protein-losing enteropathy, Short palm, Conductive... OMIM:235510
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Narrow face, Flat occiput, Dental crowding, Micrognathia, Short neck, High palate, Short philtrum... ORPHA:251028
Coffin-Siris Syndrome 6
Frontal bossing, Coarse facial features, Wormian bones, Posteriorly rotated ears, Micrognathia, H... OMIM:617808
Distal Deletion 17Q
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Abno... ORPHA:1597
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Developmental And Speech Delay Due To Sox5 Deficiency
Exaggerated median tongue furrow, Vertebral fusion, Frontal bossing, Dental crowding, Optic atrop... ORPHA:313892
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Nail dystrophy, Small ... OMIM:234050
Fg Syndrome 3
Sparse hair, Frontal upsweep of hair, Fine hair OMIM:300406
3-Hydroxyisobutyric Aciduria
Microtia, Micrognathia, Triangular face, Long philtrum ORPHA:939
Distal Duplication 5Q
Hypoplasia of the ulna, Craniosynostosis, Micrognathia, Carious teeth, Narrow mouth, Absent thumb... ORPHA:96097
Fibrochondrogenesis 1
Short neck, Short palm, Widely patent sagittal suture, Posterior vertebral hypoplasia, Rhizomelia... OMIM:228520
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Nail dystrophy, Alopecia totalis ORPHA:1366
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Sparse hair, Coarse hair, Brittle hair ORPHA:1883
Harrod Syndrome
Narrow face, Dental malocclusion, Protruding ear, High palate, Narrow mouth, Long face ORPHA:2115
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Thin upper lip vermilion, Hypoplasia of the ulna, Flat occiput, Micrognathia, Microtia, Everted l... ORPHA:357175
Aminopterin Syndrome Sine Aminopterin
Frontal bossing, Posteriorly rotated ears, Micrognathia, Short thumb, Brachycephaly, Cleft palate... OMIM:600325
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate OMIM:137215
Bohring-Opitz Syndrome
Joint dislocation, Micrognathia, Long face, Dislocated radial head, Prominent metopic ridge, Clef... OMIM:605039
Intellectual Developmental Disorder, Autosomal Recessive 35
Thin upper lip vermilion, Coarse facial features, Flat occiput, Hypoplasia of the ulna, Micrognat... OMIM:615162
Oculodentodigital Dysplasia
Abnormal pinna morphology, Selective tooth agenesis, Cleft upper lip, Carious teeth, Conductive h... OMIM:164200
Chromosome 6Pter-P24 Deletion Syndrome
Preauricular pit, Frontal bossing, Tented upper lip vermilion, Dental crowding, Posteriorly rotat... OMIM:612582
Mosaic Trisomy 16
Abnormal ear morphology, Large placenta, Short thumb, Wide mouth, Anteriorly placed anus, Short f... ORPHA:1708
Alpha-Heavy Chain Disease
Alopecia ORPHA:100025
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Developmental And Epileptic Encephalopathy 80
Optic disc pallor, Peripheral axonal neuropathy, Tented upper lip vermilion, Posteriorly rotated ... OMIM:618580
Wilson-Turner Syndrome
Thin upper lip vermilion, Uplifted earlobe, Malar prominence, Micrognathia, Small hand, Short foo... ORPHA:3459
Intellectual Developmental Disorder, Autosomal Recessive 50
Sensorineural hearing impairment OMIM:616460
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair, Cafe-au-lait spot, Hypopigmented skin patches ORPHA:457485
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Camptodactyly of finger, Dolichocephaly, Hypoplasia of the maxilla, High, ... ORPHA:1101
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Hip contracture, Dental crowding, Ankle flexion contracture, Micrognathia, Elbow flexion contract... OMIM:617468
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Low-set, posteriorly rotated ears, Camptodactyly of finger, Hypoplasia of the maxilla, Conductive... ORPHA:306542
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Cleft palate, Down... ORPHA:94066
Temtamy Syndrome
Long face, Coarse facial features, Facial asymmetry, Micrognathia, Short toe, Thick lower lip ver... ORPHA:1777
Van Bogaert-Hozay Syndrome
Tooth malposition, Abnormal pinna morphology, Distal ulnar hypoplasia, Micrognathia OMIM:277150
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Cerebellofaciodental Syndrome
Short neck, Preauricular skin tag, Dental malocclusion, Shortening of all distal phalanges of the... OMIM:616202
Otopalatodigital Syndrome Type 2
Micrognathia, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral segmentation and fusion, ... ORPHA:90652
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Thin upper lip vermilion, Frontal bossing, Tented upper lip vermilion, Facial asymmetry, External... ORPHA:438216
Oral Submucous Fibrosis
Trismus, Abnormal oral cavity morphology, Cheilitis, Narrow mouth ORPHA:357154
Mcdonough Syndrome
Mandibular prognathia, Low-set, posteriorly rotated ears, Micrognathia, Open bite, Dental maloccl... ORPHA:2471
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio OMIM:617006
Immunodeficiency 68
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Naxos Disease
Curly hair, Subungual hyperkeratosis, Sparse eyebrow, Onycholysis, Nail dystrophy, Woolly hair, S... OMIM:601214
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Micrognathia, Perisylvian polymicrogyria, Knee flexion cont... OMIM:616531
Coffin-Siris Syndrome 2
Delayed eruption of teeth, Coarse facial features, Abnormal pinna morphology, Thick lower lip ver... OMIM:614607
Congenital Ichthyosiform Erythroderma
Alopecia, Abnormality of the nail, Hypohidrosis ORPHA:79394
Deafness, Autosomal Dominant 23
Conductive hearing impairment, Sensorineural hearing impairment OMIM:605192
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair ORPHA:2221
Alopecia-Intellectual Disability Syndrome 4
Alopecia OMIM:618840
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carpal bones, Cleft palate, Hy... OMIM:620269
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of the knee, Posteriorly rotated ears, Micrognathia, Crowded maxillary incisors, Abno... ORPHA:2063
Coffin-Siris Syndrome 3
Coarse facial features, Short distal phalanx of the 5th finger, Cleft palate, Wide mouth, Macrogl... OMIM:614608
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Round face, Genu valgum, Narrow mouth, Conductive hearing impairment, Flat face OMIM:132450
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Posteriorly rotated ears, Micromelia, Micrognathia, Short neck, Cleft palate, Shor... ORPHA:1865
Trichothiodystrophy 6, Nonphotosensitive
Tiger tail banding, Brittle hair, Slow-growing hair OMIM:616943
Hallermann-Streiff Syndrome
Selective tooth agenesis, Micrognathia, High, narrow palate, Brachycephaly, High palate, Parietal... OMIM:234100
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Calvarial osteoscleros... OMIM:616331
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia OMIM:183300
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Frontal bossing, Flat occiput, Posteriorly rotated ears, Facial palsy,... ORPHA:2780
Dermatopathia Pigmentosa Reticularis
Alopecia of scalp, Nail dystrophy, Reticular hyperpigmentation, Hypohidrosis OMIM:125595
Temple-Baraitser Syndrome
Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Coarse facial... ORPHA:420561
Marbach-Rustad Progeroid Syndrome
Triangular face, Delayed eruption of primary teeth, Micrognathia, Eruption failure, Hypodontia, S... OMIM:619322
Craniosynostosis, Herrmann-Opitz Type
Turricephaly, Craniosynostosis, Micrognathia, Micromelia, Brachycephaly, Cleft palate, Abnormal a... ORPHA:2145
Distal Deletion 10P
Low-set, posteriorly rotated ears, Micrognathia, Short neck, Hearing abnormality, Non-midline cle... ORPHA:1580
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Caudate atrophy, Abnormal vestibular function, Sensorineural... ORPHA:52368
Marden-Walker Syndrome
Micrognathia, Short neck, High, narrow palate, Narrow mouth, Pyloric stenosis, Cleft palate, Radi... OMIM:248700
Perlman Syndrome
Round face, Posteriorly rotated ears, Micrognathia, High, narrow palate, Abnormal upper lip morph... ORPHA:2849
Baller-Gerold Syndrome
Frontal bossing, Narrow face, Aplasia/Hypoplasia of the thumb, Malabsorption, Micrognathia, Aplas... ORPHA:1225
Alazami-Yuan Syndrome
Thin upper lip vermilion, Dental crowding, Narrow mouth, High palate, Long philtrum OMIM:617126
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Nail dystrophy, Nail dysp... OMIM:612843
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thin upper lip vermilion, Micrognathia, Short neck, Low posterior hairline, Webbed neck, Everted ... OMIM:616549
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Micrognathia, High palate, Preauricular skin tag, Macrotia, Hyperplasia of the maxilla OMIM:620194
Zechi-Ceide Syndrome
Cleft upper lip, Short metatarsal, Cleft palate, Oligodontia, Abnormal facial shape, Malar flatte... OMIM:612916
Developmental And Epileptic Encephalopathy 70
Low-set ears, Narrow mouth OMIM:618298
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Frontal bossing, Persistent open anterior fontanelle, Dental crowding, Narrow mouth, Brachycephal... OMIM:615539
Stickler Syndrome
Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Glossoptosis, Advance... ORPHA:828
Potocki-Lupski Syndrome
Mandibular prognathia, Dental crowding, Micrognathia, Dental malocclusion, Wide mouth, High palat... OMIM:610883
Cardiocranial Syndrome, Pfeiffer Type
Low-set, posteriorly rotated ears, Torticollis, Contracture of the proximal interphalangeal joint... ORPHA:2872
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Congenital abnormal hair pattern, Spotty hypopigmentation, Nail dystrophy, Atrichia, Hy... ORPHA:1867
Hereditary Mucoepithelial Dysplasia
Sparse hair, Alopecia, Fine hair ORPHA:1839
Cerebellar-Facial-Dental Syndrome
Micrognathia, Short neck, Dental malocclusion, Alveolar ridge overgrowth, Taurodontia, Low-set ea... ORPHA:444072
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Hypohidrotic Ectodermal Dysplasia
Frontal bossing, Sinusitis, Abnormal dental morphology, Abnormality of the dentition, Hypoplasia ... ORPHA:238468
Classic Mycosis Fungoides
Alopecia, Irregular hyperpigmentation, Hypopigmented skin patches, Abnormality of the nail ORPHA:2584
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corners of mouth, ... ORPHA:453504
Sonoda Syndrome
Round face, Narrow mouth OMIM:270460
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corners of mouth, ... ORPHA:352665
Pachyonychia Congenita 2
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Sparse eyebrow, Nail dystrophy, Nail dyspl... OMIM:167210
Lambert Syndrome
Wide mouth, Malar flattening, Preauricular skin tag OMIM:245550
Marshall Syndrome
Thickened calvaria, Midface retrusion, Malar flattening, Micrognathia, Absent frontal sinuses, Se... OMIM:154780
Orofacial Cleft 15
Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip, Protruding ear, Palate ... OMIM:616788
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Sparse scalp hair, Fine hair ORPHA:2324
Noonan Syndrome 14
Curly hair, Sparse eyebrow, Hyperhidrosis, Low posterior hairline, Sparse hair OMIM:619745
Bartsocas-Papas Syndrome
Median cleft lip, Micrognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Absent th... ORPHA:1234
Trisomy 1Q
Microretrognathia, Frontal bossing, Camptodactyly of finger, Increased nuchal translucency, Cleft... ORPHA:261344
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Mixed hearing impairment, Posteriorly rotated ears, Micrognathia, Sensorineural hearing impairmen... OMIM:606164
Say Syndrome
Macrotia, Short distal phalanx of finger, Cleft palate, Micrognathia OMIM:181180
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Micrognathia, Missing ribs, Optic atrophy, Orofacial cleft, Microtia, Narr... ORPHA:3301
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Tented upper lip vermilion, Brachycephaly, Short foot, High palate, Widely spaced teeth, Low-set ... OMIM:300260
Hypomelanosis Of Ito
Macular hypopigmented whorls, streaks, and patches, Alopecia OMIM:300337
Distal 22Q11.2 Microduplication Syndrome
Mandibular prognathia, Micrognathia, Protruding ear, High palate, Short philtrum, Biparietal narr... ORPHA:261337
17Q24.2 Microdeletion Syndrome
Thin upper lip vermilion, Otosclerosis, Triangular face, Short neck, Micrognathia, Abnormality of... ORPHA:529962
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Curly hair ORPHA:85184
Trichohepatoenteric Syndrome 2
Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa OMIM:614602
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Low-set, posteriorly rotated ears, Thin vermilion border, Narrow mouth ORPHA:2370
Trisomy 12P
Thickened nuchal skin fold, Turricephaly, Micrognathia, Short neck, Cleft palate, Full cheeks, Do... ORPHA:1699
Cronkhite-Canada Syndrome
Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Hypoplastic toenails, Ab... ORPHA:2930
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Thin upper lip vermilion, Everted upper lip vermilion, Optic nerve hypoplasia, Micrognathia, Deep... OMIM:618381
Polyvalvular Heart Disease Syndrome
Dental crowding, Abnormal pinna morphology, Micrognathia, High palate, Short philtrum, Low-set ea... ORPHA:228410
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Satb2-Associated Syndrome Due To A Pathogenic Variant
Thin upper lip vermilion, Abnormality of the dentition, Celiac disease, Micrognathia, Cleft palat... ORPHA:576283
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Frontal bossing, Hypoplastic scapulae, Short femur, Rhizomelia, Micromelia, Micrognathia, Sensori... ORPHA:440354
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Mixed hearing impairment, Midface retrusion,... OMIM:300990
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Attached earlobe, Short neck, Diastema, Micrognathia, Dental malocclusion, Low-set ears, Malar fl... ORPHA:436245
Autosomal Recessive Stickler Syndrome
Micrognathia, Sensorineural hearing impairment, Cleft palate, Genu valgum, Malar flattening, Flat... ORPHA:250984
Hypoglossia-Hypodactylia
Micrognathia, Adactyly, Aglossia, Narrow mouth, Microglossia, Retrognathia OMIM:103300
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Vertebral fusion, Posteriorly rotated ears, Craniosynostosis, Cleft upper lip, Micrognathia, Hypo... OMIM:213980
Postaxial Acrofacial Dysostosis
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Camptodactyly of finger, Micrognathia,... ORPHA:246
Genitopalatocardiac Syndrome
Low-set ears, Micrognathia, Cleft palate, Cleft upper lip OMIM:231060
Lichen Planopilaris
Alopecia, Onycholysis, Abnormal fingernail morphology, Hypopigmented skin patches ORPHA:525
Ectodermal Dysplasia/Skin Fragility Syndrome
Absent eyebrow, Anhidrosis, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dys... OMIM:604536
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Round face, Abnormal oral cavity morphology, Narrow mouth ORPHA:1355
Chromosome 6Q11-Q14 Deletion Syndrome
Thin upper lip vermilion, Micrognathia, Short neck, High palate, Low-set ears, Long philtrum, Umb... OMIM:613544
Ohdo Syndrome, X-Linked
Long face, Coarse facial features, Posteriorly rotated ears, Hearing impairment, Hiatus hernia, M... OMIM:300895
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hyperhidrosis, High anterior hairline, Long eyelashes, Fine hair ORPHA:231137
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Curly hair OMIM:300986
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow OMIM:614564
Noonan Syndrome 4
Sparse eyebrow, Curly hair, High anterior hairline, Blue irides OMIM:610733
Rhizomelic Chondrodysplasia Punctata, Type 1
Frontal bossing, Rhizomelia, Micrognathia, Sensorineural hearing impairment, Cleft palate, Malar ... OMIM:215100
Brachytelephalangic Chondrodysplasia Punctata
Mixed hearing impairment, Optic nerve hypoplasia, Hypoplasia of the maxilla, Increased nuchal tra... ORPHA:79345
Larsen-Like Syndrome
Joint dislocation, Frontal bossing, Dental malocclusion, Brachycephaly, Cleft palate, Recurrent o... OMIM:608545
Mucolipidosis Type Iii
Craniofacial hyperostosis, Coarse facial features, Hearing abnormality, Cleft palate, Prominent o... ORPHA:577
Tolchin-Le Caignec Syndrome
Abnormal vestibular function, Micrognathia, Sensorineural hearing impairment, Submucous cleft har... OMIM:618971
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Zimmermann-Laband Syndrome
Micrognathia, Short neck, Supernumerary tooth, Sensorineural hearing impairment, Gingival fibroma... ORPHA:3473
Suleiman-El-Hattab Syndrome
Microretrognathia, Thin upper lip vermilion, Optic disc pallor, Thick lower lip vermilion, Webbed... OMIM:618950
Distal Duplication 18Q
Thickened nuchal skin fold, Low-set, posteriorly rotated ears, Round face, Abnormal dental morpho... ORPHA:1716
Ichthyosis, Congenital, Autosomal Recessive 1
Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia OMIM:242300
Rhombencephalosynapsis
Microretrognathia, Low-set, posteriorly rotated ears, Septo-optic dysplasia, Aganglionic megacolo... ORPHA:59315
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Dental crowding, Micrognathia, Sensorineural hearing impairment, Narrow mouth, Bird-like facies OMIM:615381
X-Linked Spinocerebellar Ataxia Type 3
Sensorineural hearing impairment, Optic atrophy ORPHA:85297
Trichothiodystrophy 8, Nonphotosensitive
Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa OMIM:619691
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... ORPHA:40366
Abruzzo-Erickson Syndrome
Sensorineural hearing impairment, Short toe, Cleft palate, Radioulnar synostosis, Conductive hear... ORPHA:921
Trichotillomania
Alopecia OMIM:613229
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Round face, Posteriorly rotated ears, Micrognathia, Wide mouth, Oligodontia, Microtia, Long philt... OMIM:602562
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality OMIM:617519
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, A... OMIM:607823
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Micrognathia, Cleft palate, Microtia, Atresia of the external auditory canal, Conductive hearing ... OMIM:300946
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border, Hearing i... OMIM:620114
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Asymmetric crying face, Micrognathia, Cleft palate, Protruding ear, Tooth agenesis, Abnormal lowe... ORPHA:1166
Congenital Myopathy 19
Posteriorly rotated ears, Micrognathia, High palate, Low-set ears, Triangular face, Hearing impai... OMIM:618578
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Trisomy 8Q
Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Short neck, Non-midline... ORPHA:1752
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Micrognathia, Short neck, Multiple joint dislocation, Brachycephaly, Knee dislocation, Shoulder d... OMIM:245600
Acrogeria
Irregular hyperpigmentation, Fine hair ORPHA:2500
Ritscher-Schinzel Syndrome 4
Curly hair OMIM:619435
Down Syndrome
Thickened nuchal skin fold, Aganglionic megacolon, Protruding tongue, Abnormality of the dentitio... ORPHA:870
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Thin upper lip vermilion, Cleft palate, Everted lower lip vermilion, H... OMIM:619736
Ablepharon-Macrostomia Syndrome
Short metacarpal, Microtia, third degree, Microtia, first degree, Short upper lip, Wide mouth, An... OMIM:200110
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Round face, Triangular face, Short neck, Preauricular skin tag, Brachyceph... ORPHA:369891
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Joint dislocation, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toe... ORPHA:3201
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Hypohidrosis, Fine hair, Onycholysis ORPHA:1028
Olmsted Syndrome 2
Sparse hair, Woolly hair, Alopecia universalis OMIM:619208
Zttk Syndrome
Frontal bossing, Midface retrusion, Craniosynostosis, Abnormality of the dentition, Hypoplasia of... OMIM:617140
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Coarse facial features, Downturned corners of mouth, Wide mouth, Everte... OMIM:618067
Acrofacial Dysostosis, Palagonia Type
Posteriorly rotated ears, Micrognathia, Short neck, High, narrow palate, Supernumerary tooth, Sma... ORPHA:1787
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Cleft upper lip, Short neck, Pachygyria, Sensorineural hearing impairme... OMIM:243310
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Prominent metopic ridge, Tented upper lip vermilion, Exaggerated cupid's bow, Small earlobe, Dela... ORPHA:364577
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Multiple Pterygium Syndrome, Escobar Variant
Micrognathia, Short neck, Knee flexion contracture, Downturned corners of mouth, High palate, Int... OMIM:265000
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
Micrognathia, Orofacial cleft, Wide mouth, Widely-spaced maxillary central incisors, High palate,... ORPHA:502434
Cornelia De Lange Syndrome 5
Micrognathia, Short neck, Small hand, Brachycephaly, Cleft palate, Downturned corners of mouth, S... OMIM:300882
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Downturned corners of mouth, Oligodontia, High palate, Bifid uvula, Long face, Preauricular pit, ... ORPHA:453499
Lipoid Proteinosis Of Urbach And Wiethe
Patchy alopecia OMIM:247100
Desbuquois Dysplasia 1
Microretrognathia, Joint dislocation, Round face, Phalangeal dislocation, Short neck, Narrow mout... OMIM:251450
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Micrognathia, Small hand, Short foot, High palate, Short philtrum, Recurrent otitis media ORPHA:254531
Osteogenesis Imperfecta, Type Iv
Wormian bones, Otosclerosis, Dentinogenesis imperfecta, Hearing impairment OMIM:166220
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Curly hair, Thick eyebrow, Highly arched eyebrow, Low posterior hairline OMIM:617360
Tetraamelia Syndrome 2
Microretrognathia, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, Low-set ears, A... OMIM:618021
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Coarse facial features, Micrognathia, Carious teeth, Glossoptosis, Delayed ossification of carpal... ORPHA:93346
Bartsocas-Papas Syndrome 2
Accessory oral frenulum, Micrognathia, Small hand, Antecubital pterygium, Bilateral cleft lip and... OMIM:619339
Tetrasomy 18P
Low-set, posteriorly rotated ears, Abnormality of neuronal migration, Long philtrum, Thin vermili... ORPHA:3307
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Hypermelanotic macule, Hypomelanotic macule, Nail dystrophy, Freckling, Alopecia of scalp OMIM:618373
Mandibuloacral Dysplasia With Type B Lipodystrophy
Dental crowding, Micrognathia, Bird-like facies, Hypoplasia of teeth, Abnormality of the neck, Hi... OMIM:608612
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia OMIM:601457
Vulto-Van Silfhout-De Vries Syndrome
Widow's peak, Horizontal eyebrow, Fine hair OMIM:615828
2P15P16.1 Microdeletion Syndrome
Prominent metopic ridge, Facial palsy, Optic nerve hypoplasia, Camptodactyly of finger, Narrow mo... ORPHA:261349
Orofaciodigital Syndrome Iv
Hamartoma of tongue, Accessory oral frenulum, Micrognathia, Cleft palate, Lobulated tongue, High ... OMIM:258860
Acromicric Dysplasia
Short palm, Round face, Short metacarpal, Narrow mouth, Deep philtrum, Thick lower lip vermilion,... OMIM:102370
Ichthyosis, Congenital, Autosomal Recessive 2
Anhidrosis, Alopecia, Thin nail, Abnormal hair morphology, Hypohidrosis, Small nail OMIM:242100
Lymphangiectasia, Intestinal
Stillbirth, Lymphopenia OMIM:152800
Progeroid Syndrome, Petty Type
Brittle hair, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in irregular rows... ORPHA:2963
Chops Syndrome
Curly hair, Thick hair, Synophrys, Coarse hair, Long eyelashes, Thick eyebrow OMIM:616368
Sheldon-Hall Syndrome
Narrow face, Ulnar deviation of the wrist, Tarsal synostosis, Short neck, Micrognathia, Protrudin... ORPHA:1147
Osteopetrosis With Renal Tubular Acidosis
Thickened calvaria, Persistence of primary teeth, Abnormality of the dentition, Micrognathia, Cra... ORPHA:2785
Melkersson-Rosenthal Syndrome
Facial palsy, Furrowed tongue OMIM:155900
Lissencephaly, X-Linked, 2
Thin upper lip vermilion, Micrognathia, High palate, Lissencephaly, Low-set ears, Long philtrum, ... OMIM:300215
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Alopecia, Melanocytic nevus OMIM:612079
Chromosome 14Q11-Q22 Deletion Syndrome
Prominent metopic ridge, Triangular face, Micrognathia, Narrow mouth, Optic atrophy, Plagiocephal... OMIM:613457
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased proportion of memory T cells, Increased B cell count, Lymphadenopathy, Hepatosplenomegaly OMIM:618982
Kaufman Oculocerebrofacial Syndrome
Thin upper lip vermilion, Optic disc pallor, Congenital hip dislocation, Abnormal pinna morpholog... OMIM:244450
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Coarse hair, Brittle hair, Nail dystrophy ORPHA:75389
Deafness, Autosomal Dominant 36
Sensorineural hearing impairment, Tinnitus OMIM:606705
Deafness, Autosomal Dominant 43
Sensorineural hearing impairment, Tinnitus OMIM:608394
Monosomy 18P
Micrognathia, Carious teeth, Short neck, Brachycephaly, Cleft palate, Low posterior hairline, Dow... ORPHA:1598
Deafness, Autosomal Dominant 33
Sensorineural hearing impairment, Tinnitus OMIM:614211
Deafness, Autosomal Dominant 64
Sensorineural hearing impairment, Tinnitus OMIM:614152
Deafness, Autosomal Dominant 67
Sensorineural hearing impairment, Tinnitus OMIM:616340
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus OMIM:618915
Deafness, Autosomal Dominant 72
Sensorineural hearing impairment, Tinnitus OMIM:617606
Deafness, Autosomal Dominant 82
Sensorineural hearing impairment, Tinnitus OMIM:619804
Deafness, Y-Linked 1
Sensorineural hearing impairment, Tinnitus OMIM:400043
Hennekam Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Camptodac... ORPHA:2136
Dyskeratosis Congenita, Autosomal Recessive 6
Sparse hair, Abnormality of skin pigmentation, Alopecia, Nail dystrophy OMIM:616353
Systemic Lupus Erythematosus 17
Alopecia OMIM:301080
Chromosome 5Q12 Deletion Syndrome
Frontal bossing, Coarse facial features, Posteriorly rotated ears, Micrognathia, Short neck, Incr... OMIM:615668
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Mandibular prognathia, Congenital muscular torticollis, Thickened nuchal skin fold, Vertebral fus... ORPHA:2916
Bent Bone Dysplasia Syndrome 1
Natal tooth, Micrognathia, Gingival overgrowth, Decreased calvarial ossification, Short clavicles... OMIM:614592
Rhizomelic Chondrodysplasia Punctata
Alopecia, Sparse body hair ORPHA:177
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Woolly hair OMIM:607450
Microcephalic Primordial Dwarfism, Montreal Type
Low-set, posteriorly rotated ears, Micrognathia, Open bite, Carious teeth, Congenital pyloric atr... ORPHA:2617
Acromicric Dysplasia
Short palm, Round face, Short metacarpal, Decreased nerve conduction velocity, Narrow mouth, Thic... ORPHA:969
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mandibular prognathia, Coarse facial features, Abnormal pinna morphology, Thick lower lip vermili... OMIM:300354
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Delayed eruption of teeth, Frontal bossing, Dental crowding, Wide mouth, High palate, Long philtrum OMIM:618825
Ring Chromosome 10 Syndrome
Frontal bossing, Aganglionic megacolon, Micrognathia, Short neck, Abnormal antihelix morphology, ... ORPHA:1438
Tetraploidy
Micrognathia, Cleft palate, Short philtrum, Biparietal narrowing, Hypoplasia of the ear cartilage... ORPHA:3305
Weyers Ulnar Ray/Oligodactyly Syndrome
Narrow face, Micrognathia, Cleft upper lip, Absent thumb, Hypoplasia of the radius, Hand oligodac... OMIM:602418
Myhre Syndrome
Mandibular prognathia, Thin upper lip vermilion, Vertebral fusion, Short neck, Hypoplasia of the ... OMIM:139210
Non-Distal Duplication 13Q
Abnormality of the dentition, Micrognathia, Aplasia/Hypoplasia of the earlobes, Abnormal antiheli... ORPHA:1702
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Irregular dentition, Microtia, Abnormal facial shape, Narrow mouth, Intestinal lymphangiectasia, ... OMIM:616006
Weill-Marchesani Syndrome 2
Short metacarpal, Hypoplasia of the maxilla, Broad skull, Elbow flexion contracture, Brachycephal... OMIM:608328
Menkes Disease
Sparse hair, Alopecia, Brittle hair, Hypopigmentation of the skin OMIM:309400
Oculocerebrofacial Syndrome, Kaufman Type
Narrow face, Flat occiput, Micrognathia, High, narrow palate, Optic atrophy, Brachycephaly, Wide ... ORPHA:2707
Orofacial Cleft 13
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia OMIM:613857
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Micrognathia, Gingival overgrowth, Narrow palate, Faci... OMIM:618186
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Coarse facial features, Protruding tongue, Short neck, Sensorineural hearing impairment, Alveolar... OMIM:612938
Distal 22Q11.2 Microdeletion Syndrome
Short palm, Thin upper lip vermilion, Branchial fistula, Camptodactyly of finger, Facial asymmetr... ORPHA:261330
Blepharo-Cheilo-Odontic Syndrome
Conical tooth, Carious teeth, Bilateral cleft lip and palate, Conductive hearing impairment, Anal... ORPHA:1997
Distal Arthrogryposis Type 1
Camptodactyly of finger, Narrow mouth ORPHA:1146
Esophageal Ring, Lower
Dysphagia, Hiatus hernia OMIM:133240
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Pyloric stenosis, Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper l... OMIM:616924
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair ORPHA:69735
Autoimmune Polyendocrinopathy Type 2
Alopecia, Hypopigmented skin patches ORPHA:3143
Bathing Suit Ichthyosis
Sparse hair, Alopecia, Nail dystrophy, Hypohidrosis ORPHA:100976
Acrorenal Syndrome
Aplasia/Hypoplasia of the radius, Cleft palate, Micrognathia ORPHA:971
Microphthalmia, Syndromic 12
Intestinal malrotation, Micrognathia, Cleft palate, Neonatal death, Retrognathia OMIM:615524
Rodrigues Blindness
Sparse hair, Fine hair OMIM:268320
Geroderma Osteodysplasticum
Mandibular prognathia, Hypoplasia of the maxilla, Periodontitis, Wormian bones, Malar flattening OMIM:231070
Greenberg Dysplasia
Micromelia, Micrognathia, Hypoplasia of the maxilla, Tetraphocomelia, Hypoplastic vertebral bodie... OMIM:215140
Ehlers-Danlos Syndrome, Classic Type, 1
Joint dislocation, Hyperextensibility of the knee, Osteoarthritis, Irregularly spaced teeth, Recu... OMIM:130000
German Syndrome
Camptodactyly of finger, Micrognathia, Short neck, Hearing abnormality, Brachycephaly, Orofacial ... ORPHA:2077
Achalasia-Microcephaly Syndrome
Mandibular prognathia, Macrotia, Micrognathia ORPHA:929
Hernia, Hiatus
Hiatus hernia OMIM:142400
Galloway-Mowat Syndrome 3
Frontal bossing, Hiatus hernia, Micrognathia, Hip dislocation, Simplified gyral pattern, High pal... OMIM:617729
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ... ORPHA:2521
Branchiooculofacial Syndrome
Micrognathia, Short neck, Postauricular pit, Conductive hearing impairment, Hypoplastic superior ... OMIM:113620
Nicolaides-Baraitser Syndrome
Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Long eyelashes, Sparse hair ORPHA:3051
Craniofrontonasal Dysplasia
Abnormality of hair texture, Widow's peak, Low posterior hairline, Ridged fingernail, Woolly hair ORPHA:1520
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Lobulated tongue, Short tibia, Unicoronal synostosis, Microretrognathia, Encephalocele, Rhizomeli... OMIM:616300
Weaver Syndrome
Deep-set nails, Abnormal fingernail morphology, Thin nail, Hypoplastic toenails, Fine hair ORPHA:3447
Hunter-Mcalpine Craniosynostosis Syndrome
Downturned corners of mouth, Craniosynostosis, Narrow mouth OMIM:601379
Spastic Paraplegia 50, Autosomal Recessive
Mandibular prognathia, Optic disc pallor, Coarse facial features, Wide mouth, High palate, Short ... OMIM:612936
Poirier-Bienvenu Neurodevelopmental Syndrome
Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum OMIM:618732
16Q24.3 Microdeletion Syndrome
Long face, Frontal bossing, Triangular face, Optic nerve hypoplasia, Micrognathia, Periventricula... ORPHA:261250
Ramos-Arroyo Syndrome
Frontal bossing, Abnormal midface morphology, Aganglionic megacolon, Carious teeth, Narrow mouth,... ORPHA:1051
Giant Axonal Neuropathy
Woolly hair, Pili canaliculi ORPHA:643
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Frontal bossing, Cloverleaf skull, Rhizomelia, Short neck, Micrognathia, Downturned corners of mo... ORPHA:93267
Meier-Gorlin Syndrome 2
Abnormal pinna morphology, Micrognathia, Dolichocephaly, Patellar aplasia, Microtia, Narrow mouth... OMIM:613800
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Low-set, posteriorly rotated ears, Micrognathia, Small hand, Downturned corners of mouth, Short foot ORPHA:254525
Autism, Susceptibility To, X-Linked 6
Short philtrum, Narrow mouth OMIM:300872
17Q23.1Q23.2 Microdeletion Syndrome
Frontal bossing, Patellar hypoplasia, Protruding ear, Widely spaced teeth, Narrow mouth, Chronic ... ORPHA:261279
Wolf-Hirschhorn Syndrome
Micrognathia, Orofacial cleft, Downturned corners of mouth, Short philtrum, Conductive hearing im... OMIM:194190
Recombinant Chromosome 8 Syndrome
Thin upper lip vermilion, Posteriorly rotated ears, Abnormality of the dentition, Micrognathia, T... OMIM:179613
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Abnormal dental enamel morphology, Carious teeth, External ear m... ORPHA:1896
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Narrow face, Micrognathia, Downturned corners of mouth, Severe sensorineural hear... OMIM:620186
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... OMIM:150550
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Round face, Narrow mouth, Downturned corners of mouth, Wide mouth, Short philtrum, Low-set ears, ... OMIM:617333
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Woolly hair, Fragile nails, Nail dystrophy, Leukonychia OMIM:615821
Atelosteogenesis, Type Ii
Micromelia, Short neck, Micrognathia, Lacunar halos around chondrocytes, Cleft palate, Flat aceta... OMIM:256050
Orofaciodigital Syndrome Iii
Supernumerary tooth, Tongue nodules, Short sternum, Low-set ears, Microdontia, Bifid tongue, Bifi... OMIM:258850
Intellectual Developmental Disorder, Autosomal Dominant 65
Short palm, Prominent metopic ridge, Tented upper lip vermilion, Posteriorly rotated ears, Round ... OMIM:619320
Acrootoocular Syndrome
Delayed eruption of teeth, Short metacarpal, Grayish enamel, Micrognathia, High, narrow palate, S... ORPHA:2980
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Nail pits, Fine hair, Melanocytic nevus, Hypoplastic ... ORPHA:978
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Micrognathia, Pierre-Robin sequence, Cleft palate, Webbe... OMIM:602196
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Micrognathia, Cleft upper lip, Cleft palate, Conductive hearing impairment, Facial asymmetry OMIM:601076
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Narrow joint spaces of the elbow, Frontal bossing, Dental crowding, Delayed closure of the anteri... ORPHA:96182
Schimke Immuno-Osseous Dysplasia
Short neck, Abnormal primary molar morphology, Abnormal intestine morphology, Hypodontia, Microdo... ORPHA:1830
Oculocerebrocutaneous Syndrome
Alopecia OMIM:164180
Immunodeficiency 57 With Autoinflammation
Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia OMIM:618108
Hajdu-Cheney Syndrome
Coarse facial features, Wormian bones, Intestinal malrotation, Micrognathia, Absent frontal sinus... OMIM:102500
Bartsocas-Papas Syndrome 1
Anal stenosis, Short metacarpal, Hypoplastic scapulae, Cleft upper lip, Hypoplasia of the maxilla... OMIM:263650
Mosaic Variegated Aneuploidy Syndrome 2
Long face, Frontal bossing, Rhizomelia, Hearing impairment, Micrognathia, Craniosynostosis, Narro... OMIM:614114
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Delayed eruption of teeth, Round face, Coarse facial features, Abnormal dental morphology, Underd... ORPHA:369950
Olmsted Syndrome 1
Subungual hyperkeratosis, Hyperhidrosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia un... OMIM:614594
Recon Progeroid Syndrome
Attached earlobe, Prominence of the premaxilla, Round face, Dental crowding, Delayed eruption of ... OMIM:620370
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia OMIM:616576
Kleefstra Syndrome 1
Mandibular prognathia, Natal tooth, Coarse facial features, Abnormal pinna morphology, Protruding... OMIM:610253
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Neonatal death, Peripheral axonal neuropathy, Micrognathia, Narrow mouth OMIM:618810
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Absence of lymph node germinal center ORPHA:277
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Abnormal pinna morphology, Short neck, Sensorineural hearing impairment, Optic disc coloboma, Cup... ORPHA:52055
Sucrosuria, Hiatus Hernia, And Impaired Intellectual Development
Hiatus hernia OMIM:272000
Fetal Trimethadione Syndrome
Micrognathia, Brachycephaly, High palate, Abnormal helix morphology, Low-set ears, Overfolded hel... ORPHA:1913
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Treacher Collins Syndrome 1
Cleft soft palate, Micrognathia, Preauricular skin tag, Cleft palate, Wide mouth, Microtia, Abnor... OMIM:154500
Combined Oxidative Phosphorylation Deficiency 31
Wide mouth, Midface retrusion, Micrognathia OMIM:617228
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi... OMIM:314050
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Brachycephaly, Hypoplastic coccy... OMIM:619512
15Q24 Microdeletion Syndrome
Smooth philtrum, Long face, Hearing impairment, Abnormality of the dentition, Facial asymmetry, M... ORPHA:94065
Microphthalmia, Syndromic 8
Mandibular prognathia, Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary ce... OMIM:601349
Terminal Osseous Dysplasia
Camptodactyly of finger, Accessory oral frenulum, Short toe, Mesomelic arm shortening, Cleft pala... OMIM:300244
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Coarse facial features, Dolichocephaly, Low posterior hairline, High palate, Narrow mouth, Malar ... ORPHA:2463
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Macrotia, Protruding ear, Patellar hypoplasia, Micrognathia OMIM:251240
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Frontal bossing, Mixed hearing impairment, Thick lower lip vermilion, Full cheeks, Gray matter he... OMIM:608624
White-Sutton Syndrome
Thin upper lip vermilion, Posteriorly rotated ears, Short neck, Sensorineural hearing impairment,... ORPHA:468678
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Sparse hair, Tiger ... OMIM:300953
Satoyoshi Syndrome
Alopecia, Alopecia universalis OMIM:600705
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Pseudodiastrophic Dysplasia
Frontal bossing, Rhizomelia, Phalangeal dislocation, Short neck, Micrognathia, Elbow dislocation,... OMIM:264180
Chromosome 16Q22 Deletion Syndrome
Frontal bossing, Prominent metopic ridge, Posteriorly rotated ears, Short neck, Micrognathia, Sen... OMIM:614541
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Micrognathia, Short neck, High, narrow palate, Ileus, High palate, Short philtrum, Low-set ears, ... OMIM:620156
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Thin upper lip vermilion, Posteriorly rotated ears, Narrow mouth, Brachycephaly, Cleft palate, Mi... OMIM:601353
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Abnormality of the dentition, Micrognathia, Sensorineural hearing impairment, Thick lower lip ver... ORPHA:85321
Localized Junctional Epidermolysis Bullosa
Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N... ORPHA:251393
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Tongue fasciculations, Narrow mouth OMIM:620007
Osteogenesis Imperfecta, Type I
Wormian bones, Otosclerosis, Dentinogenesis imperfecta, Hearing impairment OMIM:166200
Monosomy 9P
Trigonocephaly, Abnormality of the dentition, Micrognathia, Short neck, Brachycephaly, Cleft pala... ORPHA:261112
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Microretrognathia, Peripheral axonal neuropathy, Axonal loss, High palate, Narrow mouth OMIM:616866
Craniofacial Microsomia 1
Occipital encephalocele, Hemifacial hypoplasia, Micrognathia, Hypoplasia of the maxilla, Anotia, ... OMIM:164210
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Mandibular prognathia, Thin upper lip vermilion, Microretrognathia, Contracture of the proximal i... OMIM:300998
Deafness, Autosomal Recessive 103
Abnormal vestibular function, Sensorineural hearing impairment, Vestibular areflexia OMIM:616042
Cutis Laxa, Autosomal Recessive, Type Iic
Mandibular prognathia, Triangular face, Dental crowding, Hypoplasia of the maxilla, Narrow mouth,... OMIM:617402
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Flat occiput, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Pr... ORPHA:534
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Low-set, posteriorly rotated ears, Frontal bossing, Short neck, Micrognathia, Short toe, Aplasia/... ORPHA:98791
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Alopecia totalis OMIM:300918
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Low-set, posteriorly rotated ears, Intestinal malrotation, Hypoplasia of the prema... ORPHA:2166
Iniencephaly
Encephalocele, Rhizomelia, Spina bifida, Abnormal occipital bone morphology, Myelomeningocele, Ab... ORPHA:63259
Autosomal Recessive Omodysplasia
Frontal bossing, Posteriorly rotated ears, Rhizomelia, Craniosynostosis, Micrognathia, Elbow disl... ORPHA:93329
Deafness, Autosomal Dominant 16
Adult onset sensorineural hearing impairment, Tinnitus OMIM:603964
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Trigonocephaly, Short neck, Orofac... ORPHA:77301
Trichohepatoenteric Syndrome 1
Curly hair, Brittle hair, Fine hair, Sparse hair, Woolly hair, Cafe-au-lait spot, Trichorrhexis n... OMIM:222470
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein ... OMIM:273800
Epidermodysplasia Verruciformis, Susceptibility To, 4
Increased proportion of exhausted T cells OMIM:618307
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Thin upper lip vermilion, Anal stenosis, Round face, Frontal bossing, Optic nerve hypoplasia, Mic... OMIM:620029
Johnson Neuroectodermal Syndrome
Facial palsy, Carious teeth, Cleft palate, Protruding ear, Microtia, Everted lower lip vermilion,... ORPHA:2316
Luo-Schoch-Yamamoto Syndrome
Abnormal pinna morphology, Small hand, Wide mouth, Widely-spaced maxillary central incisors, Shor... OMIM:619460
Immunodeficiency 17
Death in infancy, Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T ly... OMIM:615607
X-Linked Intellectual Disability, Najm Type
Optic nerve hypoplasia, Micrognathia, Sensorineural hearing impairment, Optic atrophy, Long philt... ORPHA:163937
Temple Syndrome
Frontal bossing, Posteriorly rotated ears, Micrognathia, Small hand, Cleft palate, Short foot, Hi... OMIM:616222
Osteoglosphonic Dysplasia
Rhizomelia, Craniosynostosis, Micrognathia, Protruding ear, Tooth agenesis, Multiple unerupted teeth ORPHA:2645
Lissencephaly 7 With Cerebellar Hypoplasia
Short neck, Micrognathia, Full cheeks, Downturned corners of mouth, Lissencephaly, Neonatal death... OMIM:616342
Acrofrontofacionasal Dysostosis 1
Mandibular prognathia, Mixed hearing impairment, Short metacarpal, Cleft upper lip, Optic atrophy... OMIM:201180
Trisomy 8P
Short fourth metatarsal, Short fifth metatarsal, Posteriorly rotated ears, Short neck, Malrotatio... ORPHA:264450
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Frontal bossing, Abnormal dental morphology, Abnormal dental enamel morphology, Tarsal synostosis... ORPHA:85199
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Mandibular prognathia, Frontal bossing, Short neck, Micrognathia, Aplasia/Hypoplasia of toe, Apla... ORPHA:3082
Catel-Manzke Syndrome
Joint dislocation, Short humerus, Short metacarpal, Short femur, Cleft upper lip, Micrognathia, S... OMIM:616145
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Abnormal occipital bone morphology, Simplified gyral pattern, Knee flexion contracture, Abnormal ... ORPHA:468631
Bleeding Disorder, Platelet-Type, 21
Alopecia OMIM:617443
Craniometadiaphyseal Dysplasia
Mandibular prognathia, Natal tooth, Wormian bones, Dental crowding, Carious teeth, Cubitus valgus... OMIM:269300
Hernández-Aguirre Negrete Syndrome
Wide mouth, Round face, Deep philtrum, Low-set, posteriorly rotated ears ORPHA:2139
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Spinocerebellar atrophy, Optic atrophy, Cochlear degeneration, Hearing impairment ORPHA:95433
Parenti-Mignot Neurodevelopmental Syndrome
Frontal bossing, Posteriorly rotated ears, Craniosynostosis, Micrognathia, Cupped ear, Microtia, ... OMIM:619873
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Tinnitus, Bilateral sensorineural hearing impairment, High-frequency hearing impairment OMIM:605594
Congenital Disorder Of Glycosylation, Type Iie
Protruding tongue, Micrognathia, Short neck, Sensorineural hearing impairment, Thick vermilion bo... OMIM:608779
Nemaline Myopathy 2
Narrow mouth, Cleft palate, High palate, Low-set ears, Long philtrum OMIM:256030
Weill-Marchesani Syndrome 1
Hypoplasia of the maxilla, Broad skull, Brachycephaly, Narrow palate, Tooth malposition OMIM:277600
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Rhizomelia, Short neck, Micrognathia, Abnormality of the elbow, Hip disl... ORPHA:3098
Intellectual Developmental Disorder, Autosomal Dominant 2
Midface retrusion, Cholesteatoma OMIM:614113
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
11 pairs of ribs, Micrognathia, Decreased nerve conduction velocity, Cleft palate, Glossoptosis OMIM:618356
Arthrogryposis, Distal, Type 2B2
Ulnar deviation of the wrist, Short toe, Hip dislocation, Narrow mouth, Triangular face OMIM:618435
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Low posterior hairline, Hyperhid... OMIM:115150
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Abnormal facial shape, Long face ORPHA:3044
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Flat occiput, Intestinal malrotation, Micrognathia, Short neck, Bilateral cleft lip and palate, B... ORPHA:2001
Musculocontractural Ehlers-Danlos Syndrome
Microretrognathia, Thin upper lip vermilion, Low-set, posteriorly rotated ears, Recurrent joint d... ORPHA:2953
Clark-Baraitser Syndrome
Thin upper lip vermilion, Exaggerated cupid's bow, Dolichocephaly, Brachycephaly, Downturned corn... OMIM:617752
Skin Creases, Congenital Symmetric Circumferential, 2
Short palm, Thin upper lip vermilion, Posteriorly rotated ears, Uplifted earlobe, Micrognathia, C... OMIM:616734
X-Linked Intellectual Disability, Snyder Type
Mandibular prognathia, Narrow face, Dental crowding, Asymmetry of the ears, Facial asymmetry, Thi... ORPHA:3063
Joubert Syndrome 18
Occipital encephalocele, Trident pelvis, Cleft palate, Lobulated tongue, Retrognathia OMIM:614815
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Multiple pterygia, Micrognathia, Cleft upper lip, Cleft pala... OMIM:312150
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Micrognathia, Non-midline cleft lip, Cleft palate, Microtia, Atresia of the ex... ORPHA:3429
Cleft Palate, Deafness, And Oligodontia
Oligodontia of primary teeth, Cleft soft palate, Short hallux, No permanent dentition, Bilateral ... OMIM:216300
Bamforth-Lazarus Syndrome
Retrognathia, Cleft palate ORPHA:1226
Tooth Agenesis, Selective, 3
Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia OMIM:604625
Dyskeratosis Congenita
Esophageal stenosis, Abnormality of the dentition, Carious teeth, Malabsorption, Hypoplasia of th... ORPHA:1775
Centrifugal Lipodystrophy
Alopecia ORPHA:90156
Odontoonychodermal Dysplasia
Ridged nail, Sparse scalp hair, Dry hair, Short nail, Thin nail, Sparse eyebrow, Fine hair, Hyper... OMIM:257980
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Prolonged bleeding time, Leukocyte inclusion bodies, Epistaxis, Myocardial infarction, Impaired A... OMIM:155100
Intellectual Developmental Disorder, Autosomal Dominant 64
Thin upper lip vermilion, Prominent metopic ridge, Micrognathia, Cupped ear, Plagiocephaly, High ... OMIM:619188
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Frontal bossing, Rhizomelia, Micrognathia, Wide mouth, Short foot, Short philtrum, Low-set ears, ... ORPHA:163966
Mucopolysaccharidosis, Type Iiib
Synophrys, Coarse hair, Hirsutism OMIM:252920
Gm1 Gangliosidosis
Mandibular prognathia, Frontal bossing, Coarse facial features, Camptodactyly of finger, Narrow m... ORPHA:354
Richieri-Costa/Guion-Almeida Syndrome
Mandibular prognathia, Long face, Narrow face, Cleft upper lip, Brachycephaly, Cleft palate, Mala... OMIM:268850
16P12.1P12.3 Triplication Syndrome
Coarse facial features, High, narrow palate, Full cheeks, Wide mouth, Large earlobe, Thin vermili... ORPHA:485405
Otopalatodigital Syndrome Type 1
Thickened calvaria, Short hallux, Elbow dislocation, Short thumb, Hypoplastic frontal sinuses, Cl... ORPHA:90650
Neurofaciodigitorenal Syndrome
Mandibular prognathia, Abnormality of the philtrum, Hypoplasia of the premaxilla, Abnormal oral m... ORPHA:2673
Deafness And Myopia
Sensorineural hearing impairment OMIM:221200
Peters-Plus Syndrome
Short lingual frenulum, Limited elbow movement, Micrognathia, Hypoplasia of the maxilla, Short ne... OMIM:261540
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Micrognathia, Retrognathia, Brachycephaly, High palate, Lissencephaly, Low-set ears, Macrotia OMIM:618142
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Alopecia ORPHA:88630
Chand Syndrome
Curly hair, Nail dysplasia, Hypohidrosis ORPHA:1401
Gaucher Disease, Perinatal Lethal
Everted upper lip vermilion, Micrognathia, Microtia, Everted lower lip vermilion, Low-set ears, N... OMIM:608013
Freeman-Sheldon Syndrome
Camptodactyly of finger, Abnormality of the dentition, Narrow mouth, Long philtrum, Hearing impai... ORPHA:2053
Diastrophic Dysplasia
Low-set, posteriorly rotated ears, Joint dislocation, Camptodactyly of finger, Micromelia, Microg... ORPHA:628
Craniofrontonasal Syndrome
Ridged nail, Curly hair, Split nail, Widow's peak, Low posterior hairline, Unilateral breast hypo... OMIM:304110
Intellectual Developmental Disorder, Autosomal Dominant 43
Attached earlobe, Thin upper lip vermilion, Gingival overgrowth, Microtia, High palate, Short phi... OMIM:616977
Pachyonychia Congenita
Alopecia, Paronychia, Onychogryposis of toenails, Fingernail dysplasia, Nail dystrophy, Palmoplan... ORPHA:2309
3Mc Syndrome 2
Prominence of the premaxilla, Torticollis, Limited elbow movement, Cleft upper lip, Craniosynosto... OMIM:265050
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Curly hair, Slow-growing hair, Highly arched eyebrow, Low posterior hairline, Coarse hair, Sparse... OMIM:617506
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Narrow face, Intestinal malrotation, Abnormality of the dentition, Sho... ORPHA:2712
Noonan Syndrome 13
Prominent metopic ridge, Coarse facial features, Posteriorly rotated ears, Micrognathia, Short ne... OMIM:619087
Radio-Tartaglia Syndrome
Long face, Thin upper lip vermilion, Frontal bossing, Coarse facial features, Dental crowding, Mi... OMIM:619312
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Joint dislocation, Midface retrusion, Genu recurvatum, Phalangeal dislocation, Craniosynostosis, ... OMIM:130070
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Curly hair, Sparse scalp hair, Loose anagen hair, Long eyelashes, Multiple lentigines, Sparse hai... OMIM:607721
Hydrolethalus
Low-set, posteriorly rotated ears, Micromelia, Micrognathia, Submucous cleft hard palate, Anencep... ORPHA:2189
Williams Syndrome
Narrow face, Micrognathia, Rectal prolapse, Protruding ear, Abnormality of the neck, Microdontia,... ORPHA:904
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Anhidrosis, Alopecia, Abnormal fingernail morphology, Palmoplantar hyperhidrosis, Sparse hair ORPHA:659
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Micrognathia, Brachycephaly, Protruding ear, Oligodontia, High palate, Short philtrum, Long face,... OMIM:309590
Malan Overgrowth Syndrome
Optic disc pallor, Narrow face, Frontal bossing, Oval face, Scaphocephaly, Low posterior hairline... ORPHA:420179
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Woolly hair OMIM:605676
Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome
Abnormal pinna morphology, Ankle flexion contracture, Elbow flexion contracture, Knee flexion con... ORPHA:280384
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Frontal bossing, Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth, Hyp... OMIM:305100
Fg Syndrome Type 1
Dental crowding, Micrognathia, Fused teeth, High palate, Malrotation of colon, Microtia, Thick ve... ORPHA:93932
Deafness, Neural, With Atypical Atopic Dermatitis
Sensorineural hearing impairment OMIM:221700
Wieacker-Wolff Syndrome, Female-Restricted
Microretrognathia, Hip contracture, Posteriorly rotated ears, Facial palsy, Short neck, Hip dislo... OMIM:301041
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Pulp calcification, Taurodontia, Enamel hypoplasia OMIM:211900
Middle Ear Neuroendocrine Tumor
Abnormality of the tympanic membrane, Facial palsy, Abnormality of the auditory canal, Sensorineu... ORPHA:100084
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal dental morphology, Malar prominence, Short neck, Micrognathia, Hyperplasia of midface, F... ORPHA:2522
Kilquist Syndrome
Mandibular prognathia, Intestinal malrotation, Midgut malrotation, Xerostomia, Hypoplasia of teet... OMIM:619080
Sulfite Oxidase Deficiency, Isolated
Fine hair OMIM:272300
Shox-Related Short Stature
Short neck, Micrognathia, Madelung deformity, Genu valgum, Short foot, High palate, Forearm under... ORPHA:314795
Trichorhinophalangeal Syndrome Type 1
Frontal bossing, Short metacarpal, Camptodactyly of finger, Abnormality of the dentition, Microgn... ORPHA:77258
Diamond-Blackfan Anemia 21
Micrognathia, Short toe, Protruding ear, Genu valgum, Full cheeks, Low-set ears, Narrow mouth, Cu... OMIM:620072
Pallister-Hall-Like Syndrome
Occipital encephalocele, Median cleft lip, Micromelia, Micrognathia, Hip dislocation, Cleft palat... OMIM:241800
Myasthenic Syndrome, Congenital, 19
Facial palsy, Micrognathia, High palate, Low-set ears, Retrognathia OMIM:616720
Richieri Costa-Da Silva Syndrome
Joint dislocation, Abnormality of the dentition, Short neck, Genu valgum, Decreased anterioposter... ORPHA:3101
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Micrognathia, Cleft palate, Short philtrum, Midface retrusion, Hearing impairment OMIM:619074
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Brachycephaly, Patellar hypoplasia, Anteriorly placed anus,... OMIM:218600
Hallermann-Streiff Syndrome
Natal tooth, Frontal bossing, Abnormality of the dentition, Micrognathia, High, narrow palate, Su... ORPHA:2108
Trisomy 18
Microretrognathia, Low-set, posteriorly rotated ears, Narrow face, Camptodactyly of finger, Spina... ORPHA:3380
Global Developmental Delay With Speech And Behavioral Abnormalities
Thin upper lip vermilion, Micrognathia, Recurrent otitis media, Triangular face, Anal atresia, He... OMIM:619243
Achondrogenesis
Thickened nuchal skin fold, Frontal bossing, Micromelia, Micrognathia, Short neck, Long philtrum,... ORPHA:932
Orofaciodigital Syndrome Type 5
Frontal bossing, Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral... ORPHA:2919
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Natal tooth, Sagittal craniosynostosis, Micrognathia, Scaphocephaly, Low-set ears, Trigonocephaly OMIM:616901
Deafness-Vitiligo-Achalasia Syndrome
EEG abnormality, Sensorineural hearing impairment ORPHA:3239
Ornithine Transcarbamylase Deficiency
Pyloric stenosis ORPHA:664
Chromosome 22Q11.2 Deletion Syndrome, Distal
Smooth philtrum, Thin upper lip vermilion, Malar flattening, Cleft palate OMIM:611867
Omodysplasia 2
Frontal bossing, Short humerus, Tented upper lip vermilion, Posteriorly rotated ears, Bilateral c... OMIM:164745
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Mandibular prognathia, Round face, Coarse facial features, Abnormality of the dentition, Full che... OMIM:618505
Lethal Recessive Chondrodysplasia
Micromelia, Micrognathia, Macroglossia, Flared elbow metaphyses, Limb undergrowth ORPHA:1423
Mucopolysaccharidosis, Type Iiia
Synophrys, Coarse hair, Hirsutism OMIM:252900
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Preauricular pit, Short neck, Micrognathia, High, narrow palate, Cleft palate, Webbed neck, Abnor... ORPHA:2516
Al-Raqad Syndrome
Thin upper lip vermilion, Flat face, Low-set ears, Narrow mouth OMIM:616459
Mandibulofacial Dysostosis, Guion-Almeida Type
Trigonocephaly, Micrognathia, Preauricular skin tag, Esophageal atresia, Deep philtrum, Cleft pal... OMIM:610536
Deafness, Autosomal Dominant 41
Progressive sensorineural hearing impairment, Tinnitus OMIM:608224
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Tented upper lip vermilion, Short neck, Large fleshy ears, High palate, Prominent superior crus o... ORPHA:280633
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Malabsorption, Micrognathia, Protruding tongue, Macroglossia, Low-set ears, Malar flat... OMIM:242860
Autosomal Recessive Amelia
Micrognathia, Non-midline cleft lip, Orofacial cleft, Full cheeks, Amelia involving the upper lim... ORPHA:1027
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Micrognathia, Narrow mouth ORPHA:1979
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail ORPHA:257
Autosomal Spastic Paraplegia Type 18
Hip contracture, Abnormal pinna morphology, Ankle flexion contracture, Neck joint contracture, Bi... ORPHA:209951
Noonan Syndrome 10
Sparse eyebrow, Curly hair, Cafe-au-lait spot, Hyperpigmentation of the skin OMIM:616564
Floating-Harbor Syndrome
11 pairs of ribs, Short metacarpal, Enlarged joints, Persistence of primary teeth, Carious teeth,... ORPHA:2044
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Absent axillary hair, Alopecia of... ORPHA:2269
Laron Syndrome
Delayed eruption of teeth, Micrognathia, Osteoarthritis, Abnormality of the elbow, Short toe, Too... ORPHA:633
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Anal stenosis, Hypoplastic sacrum, Absence of Stensen duct, Selective tooth agenesis, Cleft upper... OMIM:604292
Netherton Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology, Fine hair, Irregul... ORPHA:634
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Micrognathia, Dental malocclusion, Anotia, Atresia of the external auditory canal, Conductive hea... OMIM:608257
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Carious teeth, Hypoplasia of ... OMIM:129900
Ectodermal Dysplasia-Blindness Syndrome
Abnormal fingernail morphology, Hypohidrosis, Abnormality of skin pigmentation, Fine hair, Sparse... ORPHA:1806
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Narrow mouth, Sensorineural hear... OMIM:616007
Duplication Of The Pituitary Gland
Encephalocele, Short neck, Supernumerary tooth, Abnormality of the tongue, Cleft palate, Wide mou... ORPHA:314621
Chanarin-Dorfman Syndrome
Alopecia OMIM:275630
Charge Syndrome
Mixed hearing impairment, Facial palsy, Aplasia of the semicircular canal, Sensorineural hearing ... OMIM:214800
Noonan Syndrome 2
Curly hair, Sparse eyebrow, Low posterior hairline, Cafe-au-lait spot, Hyperpigmentation of the skin OMIM:605275
De Barsy Syndrome
Delayed eruption of teeth, Congenital hip dislocation, Delayed closure of the anterior fontanelle... ORPHA:2962
Hereditary Acrokeratotic Poikiloderma
Turricephaly, Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the dentit... ORPHA:2907
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Round face, Focal polymicrogyria, Thick lower lip vermilion, Submucous cle... OMIM:619103
Alazami Syndrome
Wide mouth, Thick vermilion border, Short philtrum, Widely spaced teeth, Low-set ears, Malar flat... ORPHA:319671
Seckel Syndrome 1
11 pairs of ribs, Dental crowding, Selective tooth agenesis, Abnormal pinna morphology, Micrognat... OMIM:210600
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:169154
Trichohepatoneurodevelopmental Syndrome
Curly hair, Synophrys, Coarse hair, Long eyelashes, Hypoplastic nipples, Woolly hair, Thoracic hy... OMIM:618268
Marshall-Smith Syndrome
Craniosynostosis, Protruding tongue, Optic atrophy, Gingival overgrowth, Conductive hearing impai... ORPHA:561
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Fetal Akinesia Deformation Sequence 1
Hip contracture, Posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Short neck, Hig... OMIM:208150
Pycnodysostosis
Frontal bossing, Persistent open anterior fontanelle, Delayed eruption of primary teeth, Persiste... OMIM:265800
Glanzmann Thrombasthenia 2
Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induce... OMIM:619267
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop... OMIM:618986
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Glue ear, Preauricular skin tag, Wide mouth, Short foot, Median pseudocleft lip, Low-set ears, Re... OMIM:619758
Turnpenny-Fry Syndrome
Mandibular prognathia, Dental crowding, Brachycephaly, Downturned corners of mouth, High palate, ... OMIM:618371
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Nail dystrophy, Onychogryposis ORPHA:79395
Vertebral Hypersegmentation And Orofacial Anomalies
Micrognathia, Submucous cleft hard palate, Prominent occiput, Unilateral cleft lip, Darwin tuberc... OMIM:619122
Epidermolysis Bullosa, Lethal Acantholytic
Anonychia, Absent fingernail, Alopecia totalis, Alopecia universalis OMIM:609638
Fetal Alcohol Syndrome
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Narrow face, Micrognathia, Non-midli... ORPHA:1915
Lymphedema, Primary, With Myelodysplasia
Acute myeloid leukemia, Pancytopenia, Decreased CD4:CD8 ratio, Leukemia OMIM:614038
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Tented upper lip vermilion, Redundant neck skin, Micrognathia, Hypoplasia ... ORPHA:96334
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Otospondylomegaepiphyseal Dysplasia
Short metacarpal, Enlarged joints, Posteriorly rotated ears, Short neck, Micrognathia, Sensorineu... ORPHA:1427
Rubinstein-Taybi Syndrome 1
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, High palate, Spina... OMIM:180849
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Mandibular prognathia, Duodenal polyposis, Abnormality of canine, Micrognathia, Narrow mouth, Sho... ORPHA:261584
Arboleda-Tham Syndrome
Mandibular prognathia, Anteverted ears, Downturned corners of mouth, Short philtrum, Chronic otit... OMIM:616268
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Icf Syndrome
Malabsorption, Micrognathia, Protruding tongue, Macroglossia, Low-set ears, Umbilical hernia, Fla... ORPHA:2268
Congenital Disorder Of Glycosylation, Type Iia
Mandibular prognathia, Macrodontia, Posteriorly rotated ears, Protruding tongue, Diastema, Short ... OMIM:212066
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Isotretinoin Embryopathy-Like Syndrome
Anotia, Microtia, Cleft palate, Micrognathia OMIM:243440
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolo... OMIM:239300
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Mixed hearing impairment, Enlarged joints, Micrognathia, Sensorineural hearing impairment, Pierre... OMIM:215150
Cutis Laxa, Autosomal Recessive, Type Iiia
Frontal bossing, Wide cranial sutures, Congenital hip dislocation, Hip dislocation, Brachycephaly... OMIM:219150
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Everted upper lip vermilion, Coarse facial features, Micrognathia, Absent cupid's bow, Abnormalit... ORPHA:513456
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ... OMIM:300400
Pseudoleprechaunism Syndrome, Patterson Type
Flat acetabular roof, Abnormal mandible condylar process morphology, Genu valgum, Joint swelling,... ORPHA:2976
Congenital Disorder Of Deglycosylation 2
Genu recurvatum, Hamartoma of tongue, Micrognathia, Facial asymmetry, Macroglossia, Gray matter h... OMIM:619775
Mulibrey Nanism
Frontal bossing, Triangular face, Dental crowding, Absent frontal sinuses, Hypoplastic frontal si... OMIM:253250
Sézary Syndrome
Alopecia, Irregular hyperpigmentation, Nail dystrophy ORPHA:3162
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Abnormal Hair, Joint Laxity, And Developmental Delay
Alopecia, Trichorrhexis nodosa, Small nail, Pili torti, Fragile nails, Sparse lateral eyebrow OMIM:261990
Renpenning Syndrome 1
Mandibular prognathia, Thin upper lip vermilion, Narrow face, Long face, Macrodontia, Micrognathi... OMIM:309500
Trisomy 13
Preauricular pit, Median cleft lip, Abnormality of the dentition, Preauricular skin tag, High, na... ORPHA:3378
Kniest Dysplasia
Hip contracture, Round face, Enlarged joints, Rhizomelia, Short neck, Abnormal cartilage collagen... OMIM:156550
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Skeletal muscle atrophy, Spontaneous esophageal perfor... ORPHA:1876
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment, Hip dislocation, G... ORPHA:436174
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Multiple pterygia, Micrognathia, Cleft palate, Low-set ears,... OMIM:253290
Arthrogryposis, Distal, Type 2B3
Triangular face, Narrow mouth OMIM:618436
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Thin upper lip vermilion, Micrognathia, Cupped ear, Everted lower lip vermilion, Low-set ears, Ov... OMIM:617101
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Lymphopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision c... OMIM:619767
Xq21 Microdeletion Syndrome
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro... ORPHA:1435
Mucopolysaccharidosis, Type Iiic
Synophrys, Coarse hair, Hirsutism, Hypertrichosis OMIM:252930
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Diastema, Agenesis of molar, Supernumerary tooth, Microdontia, Anterior plagiocephaly, Bicoronal ... OMIM:619718
Hutchinson-Gilford Progeria Syndrome
Alopecia OMIM:176670
Tarp Syndrome
Posteriorly rotated ears, Micrognathia, Hypoplasia of the radius, Optic atrophy, Cleft palate, To... OMIM:311900
Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome
Preauricular pit, Wide mouth, Abnormality of mouth shape, Preauricular skin tag, Underdeveloped t... ORPHA:83619
Fountain Syndrome
Craniofacial hyperostosis, Round face, Coarse facial features, Short distal phalanx of finger, Sp... ORPHA:3219
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Abnormal pinna morphology, C... ORPHA:2839
Ohdo Syndrome, Sbbys Variant
Thin upper lip vermilion, Posteriorly rotated ears, Micrognathia, Cleft palate, Prominent occiput... OMIM:603736
Congenital Disorder Of Glycosylation, Type 2V
Thin upper lip vermilion, Cleft palate, Low posterior hairline, Protruding ear, Thick vermilion b... OMIM:619493
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... OMIM:619510
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Frontal bossing, Camptodactyly of finger, Micrognathia, Duodenal stenosis, Microtia ORPHA:2547
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Hirsutism OMIM:615830
Marshall-Smith Syndrome
Irregular dentition, Anteriorly placed anus, Glossoptosis, Short philtrum, High palate, Microdont... OMIM:602535
Cog1-Cdg
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Rhizomelia, Micrognathia, Short neck... ORPHA:263508
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Coarse facial features, Micrognathia, Short neck, Pierre-Robin sequence, Elbow f... OMIM:300868
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Wide mouth, Abnormal facial shape, Mandibular prognathia ORPHA:411515
Flynn-Aird Syndrome
Alopecia ORPHA:2047
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Contractures-Developmental Delay-Pierre Robin Syndrome
Micrognathia, High, narrow palate, Short thumb, Cleft palate, Glossoptosis, Radioulnar synostosis... ORPHA:436003
Ring Chromosome 7 Syndrome
Mandibular prognathia, Prominent crus of helix, Small hand, Brachycephaly, Cleft palate, Genu val... ORPHA:1449
Gorham-Stout Disease
Abnormality of the internal auditory canal, Hearing impairment ORPHA:73
Fetal Valproate Spectrum Disorder
Downturned corners of mouth, Long philtrum, Thin vermilion border, Narrow mouth ORPHA:1906
Bilateral Polymicrogyria
4-layered lissencephaly, Micrognathia, Sensorineural hearing impairment, Perisylvian polymicrogyr... ORPHA:268940
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Camptodactyly of finger, Wide mouth, Short philtrum, Low-set ears, Retrognathia ORPHA:1194
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Sagittal craniosynostosis, Micrognathia, Scaphocephaly, Small hand, Brachycephaly, Cleft palate, ... ORPHA:459061
Seckel Syndrome 2
Microdontia, Microglossia, Micrognathia OMIM:606744
Frias Syndrome
Cupped ear, Posteriorly rotated ears, Micrognathia OMIM:609640
Ritscher-Schinzel Syndrome 1
Micrognathia, Missing ribs, Brachycephaly, Cleft palate, Low posterior hairline, Prominent occipu... OMIM:220210
Dysosteosclerosis
Delayed eruption of teeth, Natal tooth, Frontal bossing, Round face, Delayed closure of the anter... OMIM:224300
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Fine hair ORPHA:228390
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Thin upper lip vermilion, Oligodontia, Hypodontia, Narrow mouth, Microdontia, Long philtrum OMIM:618092
8P Inverted Duplication/Deletion Syndrome
Round face, Micrognathia, Short neck, High, narrow palate, Macrotia, Abnormality of dental erupti... ORPHA:96092
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Tympanosclerosis, Enamel hypoplasia, Malabsorption, Atrophic gastritis OMIM:240300
Hall-Riggs Syndrome
Coarse hair, Slow-growing hair, Thick hair ORPHA:2107
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Frontal bossing, Short neck, Dolichocephaly, Cleft lip, Deep philtrum, Cleft p... OMIM:618571
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Impaired collagen-induced platelet a... OMIM:614201
Brachycephaly, Trichomegaly, And Developmental Delay
Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow OMIM:617412
Femoral-Facial Syndrome
Thin upper lip vermilion, Short femur, Micrognathia, Cleft palate, Orofacial cleft, Radioulnar sy... ORPHA:1988
Aicardi Syndrome
Intestinal polyposis, Prominence of the premaxilla, Block vertebrae, Hiatus hernia, Cleft upper l... ORPHA:50
Autoimmune Polyendocrinopathy Type 1
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches ORPHA:3453
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Spina bifida, Short neck, Hearing impairment, Facial asymmetry, ... ORPHA:2345
Intellectual Developmental Disorder, Autosomal Dominant 1
Mandibular prognathia, Micrognathia, Brachycephaly, Protruding ear, Downturned corners of mouth, ... OMIM:156200
Emanuel Syndrome
Broad jaw, Thickened nuchal skin fold, Torticollis, Congenital hip dislocation, Dental crowding, ... OMIM:609029
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Frontal bossing, Triangular face, Exaggerated cupid's bow, Cleft lip, Deep philtrum, Cleft palate... OMIM:620098
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Short neck, Low posterior hairline, Downturned corners of mouth, Wide mouth, Short foot, Thin ver... OMIM:300860
Trichodermodysplasia-Dental Alterations Syndrome
Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Multiple cafe-au-lait spo... ORPHA:3353
Oligomeganephronia
Branchial cyst, Optic disc coloboma, Hearing impairment, Micrognathia ORPHA:2260
Blepharophimosis-Impaired Intellectual Development Syndrome
Thin upper lip vermilion, Frontal bossing, Exaggerated cupid's bow, Posteriorly rotated ears, Den... OMIM:619293
Recombinant 8 Syndrome
Large face, Camptodactyly of finger, Hearing impairment, Cleft upper lip, Abnormality of the dent... ORPHA:96167
Orofaciodigital Syndrome Vi
11 pairs of ribs, Short femur, Posteriorly rotated ears, Hamartoma of tongue, Accessory oral fren... OMIM:277170
Diabetic Embryopathy
Low-set, posteriorly rotated ears, Frontal bossing, Micrognathia, Cleft palate, Spinal dysraphism... ORPHA:1926
X-Linked Intellectual Disability, Wilson Type
Mandibular prognathia, Square face, Brachycephaly, Wide mouth, Thick vermilion border ORPHA:85290
Stevenson-Carey Syndrome
Posteriorly rotated ears, Pierre-Robin sequence, Brachycephaly, Downturned corners of mouth, Low-... OMIM:611961
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Stickler Syndrome, Type I
Arthropathy, Micrognathia, Sensorineural hearing impairment, Submucous cleft hard palate, Pierre-... OMIM:108300
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal peripheral action potential amplitude, Abnormality of the seventh cranial nerve ORPHA:90117
Trichorhinophalangeal Syndrome, Type I
Delayed eruption of teeth, Thin upper lip vermilion, Short metacarpal, Micrognathia, Carious teet... OMIM:190350
Campomelic Dysplasia
Irregular dentition, Micrognathia, Patellar hypoplasia, Shortening of all phalanges of the toes, ... OMIM:114290
Holoprosencephaly 7
Bilateral cleft palate, Frontal bossing, Median cleft lip, Flat occiput, Bilateral cleft lip, Hyp... OMIM:610828
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Encephalocele, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of th... ORPHA:1908
Autosomal Dominant Omodysplasia
Short palm, Frontal bossing, Short humerus, Rhizomelia, Micrognathia, Elbow dislocation, Patellar... ORPHA:93328
Fetal Akinesia Deformation Sequence
Intestinal hypoplasia, Posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Cleft pal... ORPHA:994
Adams-Oliver Syndrome 2
Alopecia, Low anterior hairline, Small nail OMIM:614219
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Microretrognathia, Thin upper lip vermilion, Low-set, posteriorly rotated ears, Preauricular pit,... ORPHA:457193
Branchiootic Syndrome 3
Branchial cyst, Preauricular pit, Sensorineural hearing impairment, Preauricular skin tag, Commis... OMIM:608389
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Sensorineural hearing impairment, Vestibular areflexia OMIM:609006
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis OMIM:188025
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the tongue, Facial palsy, Micrognathia, Ab... ORPHA:570
Fibrochondrogenesis
Round face, Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Hearing abnorm... ORPHA:2021
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Frontal bossing, Micrognathia, Short neck, Abnormality of the elbow, Brachycephaly, Cleft palate,... ORPHA:163649
Zaki Syndrome
Micrognathia, Cupped ear, Wide mouth, Median pseudocleft lip, High palate, Short philtrum, Preaur... OMIM:619648
Spondylodysplastic Ehlers-Danlos Syndrome
Joint dislocation, Abnormality of the temporomandibular joint, Hemifacial hypoplasia, Micrognathi... ORPHA:536471
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, Autoimmune thro... OMIM:601859
Hamamy Syndrome
Thin upper lip vermilion, Craniosynostosis, Micrognathia, Sensorineural hearing impairment, Denta... OMIM:611174
Orofaciodigital Syndrome I
Lobulated tongue, High palate, Microretrognathia, Hamartoma of tongue, Cleft upper lip, Supernume... OMIM:311200
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Pettigrew Syndrome
Mandibular prognathia, Long face, Coarse facial features, Thickened calvaria, Sensorineural heari... OMIM:304340
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Craniosynostosis, Micrognathia, Cleft palate, Plagiocephaly, Decreased calvarial ossification, Tr... OMIM:618265
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Oral mucosal blisters, Esophageal stricture, Narrow mouth, En... OMIM:226600
Lelis Syndrome
Mandibular prognathia, Carious teeth, Furrowed tongue, Hypodontia, Midface retrusion, Long face ORPHA:140936
Schwartz-Jampel Syndrome
Micromelia, Micrognathia, Short neck, High palate, Wrist flexion contracture, Low-set, posteriorl... ORPHA:800
Doors Syndrome
Short lingual frenulum, Brachycephaly, Downturned corners of mouth, Widely spaced teeth, High pal... ORPHA:79500
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Congenital hip dislocation, Cleft upper lip, Conical tooth, Midgut malrot... OMIM:263750
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Deep philtrum, Sensorineural hearing impairment, Wide mouth, Long philtrum, Abnormality of the wr... ORPHA:1825
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Cleft palate, Hypoplasia of teeth, Microtia, Widely spaced teeth, Recurrent otitis media, Microdo... ORPHA:2728
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pyloric stenosis, Arthrogryposis multiplex congenita, Camptodactyly OMIM:614262
Cree Mental Retardation Syndrome
Aplasia/Hypoplasia of the ribs, Posteriorly rotated ears, Cleft soft palate, Micrognathia, Brachy... OMIM:606851
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Woolly hair OMIM:610193
Orofaciodigital Syndrome Type 6
Low-set, posteriorly rotated ears, Frontal bossing, Hamartoma of tongue, Micrognathia, Abnormalit... ORPHA:2754
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Mandibular prognathia, Posteriorly rotated ears, Protruding tongue, Prominent crus of helix, Ever... OMIM:617804
Autosomal Recessive Faciodigitogenital Syndrome
Frontal bossing, Posteriorly rotated ears, Micrognathia, Open bite, Long neck, Deep philtrum, Bra... ORPHA:1974
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia OMIM:600785
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Micrognathia, Optic atrophy, High palate, Bilateral sensorineural hearing impairment, Low-set ear... OMIM:620089
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Thin upper lip vermilion, Frontal bossing, Optic nerve hypoplasia, Micrognathia, Wide mouth, Wide... ORPHA:363686
Mandibuloacral Dysplasia
Dental crowding, Micrognathia, Abnormal tongue morphology, Hypoplasia of teeth, Full cheeks, Incr... ORPHA:2457
Cerebrocostomandibular Syndrome
Spina bifida, Micrognathia, Conductive hearing impairment, Myelomeningocele, Meningocele, Cleft p... ORPHA:1393
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Long face, Hearing impairment, Conical tooth, Micrognathia, Supernumerary tooth, Sensorineural he... ORPHA:90024
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Cond... OMIM:117650
Keutel Syndrome
Alopecia ORPHA:85202
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hypoplasia of the maxilla, Simplified gyral pattern, Protruding ear, Downturned corners of mouth,... ORPHA:500150
Hydrolethalus Syndrome 2
Anencephaly, Cleft palate, Micrognathia OMIM:614120
Robinow Syndrome, Autosomal Recessive 2
Frontal bossing, Posteriorly rotated ears, Cleft soft palate, Abnormality of the dentition, Micro... OMIM:618529
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha... OMIM:613102
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Thin upper lip vermilion, Midface retrusion, Frontal bossing, Delayed ... OMIM:607812
Microphthalmia With Limb Anomalies
Frontal bossing, Posteriorly rotated ears, Cleft upper lip, Capitate-hamate fusion, Deep philtrum... OMIM:206920
Distal Duplication 17Q
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Frontal bossing, Rhizomelia, Microgn... ORPHA:3379
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short palm, Broad neck, Midface retrusion, Round face, Coarse facial features, Short metacarpal, ... OMIM:611717
22Q11.2 Duplication Syndrome
Narrow face, Micrognathia, Cleft palate, Anterior creases of earlobe, Midface retrusion, Smooth p... ORPHA:1727
Fontaine Progeroid Syndrome
Mandibular prognathia, Micrognathia, High, narrow palate, Brachycephaly, Anteriorly placed anus, ... OMIM:612289
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Alopecia, Supernumerary nipple ORPHA:3224
Coffin-Siris Syndrome 11
Frontal bossing, Prominent metopic ridge, Cleft soft palate, Uplifted earlobe, Esophageal atresia... OMIM:618779
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
High, narrow palate, Thick lower lip vermilion, Wide mouth, Macrotia, Midface retrusion OMIM:617268
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Coarse facial features, Ulnar deviation of the wrist, Grayish enamel, Cari... OMIM:253000
Klippel-Feil Syndrome 2, Autosomal Recessive
Abnormal pinna morphology, Short neck, Cleft upper lip, Sensorineural hearing impairment, Cleft p... OMIM:214300
Cleidocranial Dysplasia 1
Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, High, narrow palate, S... OMIM:119600
Netherton Syndrome
Sparse eyebrow, Sparse scalp hair, Brittle hair, Brittle scalp hair OMIM:256500
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Otosclerosis, Coarse facial features, Abnormal dental morphology, Camptodactyly of f... ORPHA:217085
Fgfr2-Related Bent Bone Dysplasia
Overfolding of the superior helices, Natal tooth, Micrognathia, Gingival overgrowth, Metopic depr... ORPHA:313855
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormal pinna morphology, Micrognathia, Optic atrophy, Gingival overgrowth, Short philtrum, Abno... ORPHA:480898
Frontometaphyseal Dysplasia 1
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... OMIM:305620
Spondyloepiphyseal Dysplasia Congenita
Coarse facial features, Short femur, Limited elbow movement, Short neck, Micrognathia, Upper limb... ORPHA:94068
9Q33.3Q34.11 Microdeletion Syndrome
Prominent metopic ridge, Round face, Abnormal pinna morphology, Short neck, Tented philtrum, Pate... ORPHA:495818
Melnick-Needles Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Frontal bossing, Facial asymmetry, Microgna... ORPHA:2484
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Dry hair, Brittle hair, Nail dystrophy ORPHA:93947
Intellectual Disability-Strabismus Syndrome
Long face, Facial asymmetry, Micrognathia, Abnormality of the dentition, Short neck, Wide mouth, ... ORPHA:363528
Hypotrichosis 14
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair OMIM:618275
Cerebrooculonasal Syndrome
Encephalocele, Frontal bossing, Posteriorly rotated ears, Optic nerve hypoplasia, Craniosynostosi... OMIM:605627
Waardenburg Syndrome Type 1
Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Spina bifida, Cleft upp... ORPHA:894
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mandibular prognathia, Coarse facial features, Protruding tongue, Everted lower lip vermilion, Ov... ORPHA:324410
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Sparse hair, Alopecia, Fragile nails OMIM:242150
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Low anterior hairline, Hirsutism, Woolly hair, Broad eyebrow OMIM:619244
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Intestinal malrotation, Micrognathia, Deep philtrum, Brachycephaly, Cle... ORPHA:404440
Trichothiodystrophy 1, Photosensitive
Brittle hair, Trichoschisis, Fine hair, Fragile nails, Nail dystrophy, Small nail, Sparse hair, F... OMIM:601675
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Posteriorly rotated ears, Trismus, Deep philtrum, Long neck, Dental malocclusio... OMIM:227330
Microtia With Meatal Atresia And Conductive Deafness
Wide mouth, Aplasia/Hypoplasia of the middle ear, Microtia, Anotia, Conductive hearing impairment... OMIM:251800
Holocarboxylase Synthetase Deficiency
Alopecia ORPHA:79242
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Platyspondylic Dysplasia, Torrance Type
Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Cleft palate, Short foot, Low-set e... ORPHA:85166
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Otosclerosis, Coarse facial features, Abnormal dental morphology, Camptodactyly of f... ORPHA:217093
Carey-Fineman-Ziter Syndrome
Aplasia/Hypoplasia of the tongue, Facial palsy, Micrognathia, Pierre-Robin sequence, Cleft palate... ORPHA:1358
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Condu... OMIM:154400
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Posteriorly rotated ears, Short neck, Micrognathia, Brachycephaly, Cleft palate, Lar... OMIM:616897
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Short palm, Dislocated rad... OMIM:268310
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Deeah Syndrome
Malabsorption, Short neck, Narrow mouth, Narrow palate, Low posterior hairline, High palate, Shor... OMIM:619004
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Dental crowding, Micrognathia, Short neck, Orofacial cleft, Downturned co... OMIM:180700
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Thin upper lip vermilion, Abnormal pinna morphology, Perianal abscess, Small hand, Wide mouth, Ab... OMIM:614684
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Frontal bossing, Round face, Short neck, Brachycephaly, Wide mouth, Macroglossia, Plagiocephaly, ... OMIM:616789
Silver-Russell Syndrome Due To A Point Mutation
Frontal bossing, Micrognathia, Cleft palate, Short 5th finger, Low-set ears, Small placenta, Tria... ORPHA:397590
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Thin upper lip vermilion, Micrognathia, High, narrow palate, Deep philtrum... ORPHA:435638
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... ORPHA:263665
Fetal Hydantoin Syndrome
Coarse hair, Hypoplastic fingernail, Low posterior hairline ORPHA:1912
Fryns Syndrome
Thickened nuchal skin fold, Low-set, posteriorly rotated ears, Coarse facial features, Tented upp... ORPHA:2059
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Tented upper lip vermilion, Micrognathia, Oligodontia, Aplasia of the distal phalanx of the 5th f... OMIM:608670
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Mixed hearing impairment, Coarse facial features, Thickened helices, M... ORPHA:581
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Thin upper lip vermilion, Posteriorly rotated ears, Optic atrophy, Downturned corners of mouth, W... OMIM:618590
Satoyoshi Syndrome
Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis ORPHA:3130
C Syndrome
Short metacarpal, Posteriorly rotated ears, Accessory oral frenulum, Micrognathia, Micromelia, Hi... OMIM:211750
Incontinentia Pigmenti
Ridged nail, Alopecia, Supernumerary nipple, Nail pits, Fine hair, Abnormality of skin pigmentati... OMIM:308300
Restrictive Dermopathy 2
Microretrognathia, Rectal prolapse, Hypoplastic facial bones, Short clavicles OMIM:619793
Primrose Syndrome
Hip contracture, Short distal phalanx of finger, Calcification of the auricular cartilage, Hypopl... OMIM:259050
Diamond-Blackfan Anemia 10
Posteriorly rotated ears, Micrognathia, Cleft palate, Microtia, Atresia of the external auditory ... OMIM:613309
Chromosome 15Q11.2 Deletion Syndrome
Irregular dentition, Coarse facial features, Micrognathia, Cleft palate, Plagiocephaly, Short fin... OMIM:615656
Mucopolysaccharidosis Type 2
Papilledema, Otosclerosis, Coarse facial features, Decreased nerve conduction velocity, Sensorine... ORPHA:580
Mucopolysaccharidosis Type 4
Joint dislocation, Coarse facial features, Abnormal dental enamel morphology, Abnormality of the ... ORPHA:582
Revesz Syndrome
Nail pits, Fine hair, Nail dystrophy, Sparse hair, Fine, reticulate skin pigmentation, Ridged fin... OMIM:268130
Kabuki Syndrome 2
Natal tooth, Micrognathia, Lower lip pit, Cupped ear, Dental malocclusion, Hip dislocation, Cleft... OMIM:300867
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Reticulated skin pigmentation, Fine hair, Premature graying of hair, Nail dysplasia OMIM:613990
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Sensorineural hearing impairment ORPHA:3225
Congenital Heart Defects And Skeletal Malformations Syndrome
Frontal bossing, Dental crowding, Intestinal malrotation, Carious teeth, Downturned corners of mo... OMIM:617602
Distal Deletion 3P
Low-set, posteriorly rotated ears, Preauricular pit, Micrognathia, Short neck, Brachycephaly, Cle... ORPHA:1620
Marden-Walker Syndrome
Posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Pyloric stenosis, Submucous clef... ORPHA:2461
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Short femur, Tarsal synostosis, Micrognathia, Patellar aplasia, Cleft palate, Patellar hypoplasia... OMIM:147891
Axenfeld-Rieger Syndrome, Type 1
Thin upper lip vermilion, Anal stenosis, Hypoplasia of the maxilla, Oligodontia, Short philtrum, ... OMIM:180500
Cdags Syndrome
Frontal bossing, Delayed cranial suture closure, Sagittal craniosynostosis, Rectourethral fistula... OMIM:603116
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Hyperpigmentation of the skin, Nail dystrophy, Nail dysplasia OMIM:175500
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Micrognathia, Full cheeks, Wide mouth, Esophagitis, Abnormal facial shape ORPHA:79350
Orofaciodigital Syndrome Xv
Low-set ears, Lobulated tongue, Flat face, Midline notch of upper alveolar ridge OMIM:617127
Cousin Syndrome
Short neck, Micrognathia, Wrist flexion contracture, Dislocated radial head, Rhizomelia, Humerora... OMIM:260660
Ferguson-Bonni Neurodevelopmental Syndrome
Stenosis of the external auditory canal, High palate, Hearing impairment, Micrognathia OMIM:619699
Atelosteogenesis, Type I
Micrognathia, Short neck, Short metatarsal, Knee dislocation, Neonatal death, Vertebral hypoplasi... OMIM:108720
Robinow Syndrome, Autosomal Dominant 3
Frontal bossing, Micrognathia, Short neck, Cleft lip, Dental malocclusion, Gingival overgrowth, C... OMIM:616894
46,Xy Sex Reversal 4
Distal symphalangism, Trigonocephaly, Micrognathia, Sensorineural hearing impairment, Cleft palat... OMIM:154230
Neu-Laxova Syndrome 2
Spina bifida, Short neck, Micrognathia, Cleft palate, High palate, Lissencephaly, Low-set ears OMIM:616038
Chromosome 8Q21.11 Deletion Syndrome
Square face, Round face, Exaggerated cupid's bow, Short metacarpal, Micrognathia, Short neck, Sen... OMIM:614230
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Coarse hair OMIM:118650
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Conduc... ORPHA:1071
Bresek Syndrome
Alopecia ORPHA:85284
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Uplifted earlobe, Cleft palate, Furrowed tongue, High palate, Short p... OMIM:616449
Faciocardiorenal Syndrome
Cleft palate, Protruding ear, Plagiocephaly, Hypodontia, Narrow mouth, Smooth philtrum ORPHA:1973
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time, Giant platelets, Thrombocytopenia OMIM:608404
Lissencephaly 6 With Microcephaly
Thin upper lip vermilion, Periventricular heterotopia, Pachygyria, Simplified gyral pattern, Micr... OMIM:616212
Hyperphosphatasia-Intellectual Disability Syndrome
Mandibular prognathia, Round face, Tented upper lip vermilion, Aganglionic megacolon, Coarse faci... ORPHA:247262
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Microretrognathia, Thin upper lip vermilion, Joint dislocation, Posteriorly rotated ears, Intesti... OMIM:601776
Chromosome 18P Deletion Syndrome
Round face, Redundant neck skin, Posteriorly rotated ears, Short neck, Micrognathia, High palate,... OMIM:146390
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Short neck, Abnormality of the dentition, Low posterior hairline, Wide mouth, Prominent antihelix... OMIM:615802
Kury-Isidor Syndrome
Alopecia, Hypertrichosis OMIM:619762
Opitz-Kaveggia Syndrome
Dental crowding, Micrognathia, Short neck, Anteriorly placed anus, Simple ear, Cleft upper lip, U... OMIM:305450
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Polymicrogyria, Narrow mouth ORPHA:83473
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Impaired ... ORPHA:849
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thickened nuchal skin fold, Thin upper lip vermilion, Redundant neck skin, Flat occiput, Microgna... OMIM:235255
Autosomal Recessive Multiple Pterygium Syndrome
Multiple pterygia, Micrognathia, Orofacial cleft, High palate, Conductive hearing impairment, Pte... ORPHA:2990
Mosaic Trisomy 1
Microretrognathia, Frontal bossing, Coarse facial features, Abnormal pinna morphology, Camptodact... ORPHA:1692
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Short ear, Abnormal cortical gyration, Narrow mouth, Thick lower lip vermilion, Mesiodens, Long p... ORPHA:314647
3C Syndrome
Frontal bossing, Intestinal malrotation, Micrognathia, Short neck, High, narrow palate, Missing r... ORPHA:7
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Lymphade... ORPHA:331206
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Synophrys, Fine hair OMIM:619428
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Micrognathia, Craniofacial osteosclerosis, High palate, Conductive hearing impai... OMIM:300373
Chromosome 13Q33-Q34 Deletion Syndrome
Irregular dentition, Tented upper lip vermilion, Micrognathia, Brachycephaly, Anteriorly placed a... OMIM:619148
Multiple Benign Circumferential Skin Creases On Limbs
Low-set, posteriorly rotated ears, Micrognathia, External ear malformation, Cleft palate, Long ph... ORPHA:2505
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Sparse hair OMIM:607626
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Limited elbow movement, Micrognathia, Short neck, Brachycephaly, Downturned corners of mouth, Hig... OMIM:610759
Orofaciodigital Syndrome Xiv
Microretrognathia, Natal tooth, Occipital encephalocele, Posteriorly rotated ears, Hamartoma of t... OMIM:615948
Baraitser-Winter Cerebrofrontofacial Syndrome
Prominent metopic ridge, Coarse facial features, Micrognathia, Short neck, Pachygyria, Optic disc... ORPHA:2995
Distal Deletion 10Q
Congenital sensorineural hearing impairment, Spina bifida occulta, Cochlear malformation, Protrud... ORPHA:96148
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,... ORPHA:35173
Peroxisome Biogenesis Disorder 2A (Zellweger)
Turricephaly, Micrognathia, Optic nerve dysplasia, Cleft palate, Abnormal helix morphology, Dolic... OMIM:214110
Fibrodysplasia Ossificans Progressiva
Alopecia OMIM:135100
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing... OMIM:619260
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Abnormal oral mucosa morphology, Micromelia, Abnormality of the dentit... ORPHA:289
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Round face, Micromelia, Short neck, Micrognathia, Advanced ossification of carpal ... OMIM:224400
15Q Overgrowth Syndrome
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta... ORPHA:314585
Intellectual Developmental Disorder, Autosomal Dominant 29
Long face, Thin upper lip vermilion, Frontal bossing, Dental crowding, Hearing impairment, Brachy... OMIM:616078
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Wide mouth, Retrognathia, Micrognathia OMIM:604273
Carey-Fineman-Ziter Syndrome 1
Facial palsy, Micrognathia, Trismus, Sensorineural hearing impairment, Pierre-Robin sequence, Cle... OMIM:254940
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Sparse hair, Alopecia, Hypohidrosis, Abnormal toenail morphology ORPHA:1005
Mandibuloacral Dysplasia With Type B Lipodystrophy
Aplasia/Hypoplasia of the clavicles, Abnormality of the dentition, Micrognathia, Narrow mouth, Sh... ORPHA:90154
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Alopecia OMIM:600142
Peroxisome Biogenesis Disorder 1A (Zellweger)
Redundant neck skin, Flat occiput, Micrognathia, High, narrow palate, High palate, Low-set ears, ... OMIM:214100
Mucoepithelial Dysplasia, Hereditary
Alopecia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilial nail infection OMIM:158310
Zimmermann-Laband Syndrome 1
Delayed eruption of teeth, Mandibular prognathia, Coarse facial features, Short distal phalanx of... OMIM:135500
Brain Malformations With Or Without Urinary Tract Defects
Thin upper lip vermilion, Narrow mouth, Metopic synostosis, Low-set ears, Broad face, Overfolded ... OMIM:613735
Joubert Syndrome 14
Encephalocele, Tented upper lip vermilion, Posteriorly rotated ears, Meningocele, Optic atrophy, ... OMIM:614424
Autoimmune Lymphoproliferative Syndrome, Type Iii
Alopecia OMIM:615559
Spinocerebellar Ataxia-Dysmorphism Syndrome
Coarse hair ORPHA:1185
Hemochromatosis, Type 1
Alopecia, Hyperpigmentation of the skin OMIM:235200
Orofaciodigital Syndrome X
Coalescence of tarsal bones, Hand oligodactyly, Cleft palate, Retrognathia, Fibular aplasia OMIM:165590
Witteveen-Kolk Syndrome
Narrow face, Glue ear, Uplifted earlobe, High, narrow palate, Protruding ear, Short philtrum, Hig... OMIM:613406
Fryns-Smeets-Thiry Syndrome
Micrognathia, Thick lower lip vermilion, Hip dislocation, Patellar aplasia, Wide mouth, Downturne... ORPHA:2058
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Freckling OMIM:137940
Autosomal Recessive Spastic Paraplegia Type 77
Macrodontia of permanent maxillary central incisor, Retrognathia ORPHA:466722
Lessel-Kubisch Syndrome
Narrow mouth OMIM:618681
19Q13.11 Microdeletion Syndrome
Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Sparse ... ORPHA:217346
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Wide mouth, Widely spaced teeth, Mandibular prognathia, Protruding tongue ORPHA:98795
Jaberi-Elahi Syndrome
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair OMIM:617988
Contractural Arachnodactyly, Congenital
Hip contracture, Frontal bossing, Short neck, Micrognathia, Limited elbow extension, Elbow flexio... OMIM:121050
Achondrogenesis, Type Ii
Microretrognathia, Frontal bossing, Brachycephaly, Cleft palate, Stillbirth, Short ribs, Long phi... OMIM:200610
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Thrombocytopenia, Giant platelet... OMIM:231200
Congenital Myopathy 17
Mandibular prognathia, Tented upper lip vermilion, Dental malocclusion, Narrow jaw, Cleft palate,... OMIM:618975
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Pancytopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision circle level OMIM:617341
X-Linked Intellectual Disability, Armfield Type
Mandibular prognathia, Micrognathia, Abnormality of the elbow, Small hand, Brachycephaly, Cleft p... ORPHA:85276
Xk Aprosencephaly Syndrome
Anal atresia, Narrow mouth ORPHA:3469
22Q11.2 Deletion Syndrome
Micrognathia, Short neck, Short philtrum, Conductive hearing impairment, Chronic otitis media, Sm... ORPHA:567
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Optic disc pallor, Optic nerve hypoplasia, Micrognathia, Sensorineural hearing impairment, Oval f... OMIM:300749
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Curly hair, Abnormal fingernail morphology, Thick hair, Highly arched eyebrow, Hypoplastic toenai... ORPHA:444077
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Oculomaxillofacial Dysostosis
Median cleft lip, Camptodactyly of finger, Micrognathia, Abnormality of the dentition, Cleft palate ORPHA:1794
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Frontal bossing, Posteriorly rotated ears, M... OMIM:247200
Adrenoleukodystrophy
Alopecia, Hyperpigmentation of the skin OMIM:300100
Osteogenesis Imperfecta, Type Iii
Frontal bossing, Triangular face, Protrusio acetabuli, Micrognathia, Platybasia, Decreased calvar... OMIM:259420
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Mandibular prognathia, Pachygyria, Optic atrophy, Wide mouth, Thick vermilion border, Tooth malpo... OMIM:619576
Facioscapulohumeral Muscular Dystrophy 1
Tongue atrophy, Facial palsy, Sensorineural hearing impairment OMIM:158900
Ulbright-Hodes Syndrome
Short humerus, Short metacarpal, Abnormal pinna morphology, Micrognathia, Short neck, Humeroradia... ORPHA:3404
Immunodeficiency 25
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia OMIM:610163
Czeizel-Losonci Syndrome
Thickened nuchal skin fold, Low-set, posteriorly rotated ears, Spina bifida, Micrognathia, Myelom... ORPHA:2437
Diamond-Blackfan Anemia 6
Micrognathia, Cleft upper lip, Short thumb, Cleft palate, Retrognathia, Bifid uvula OMIM:612561
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Camptodactyly of finger, Micrognathia, Short neck, Submucous cleft ha... OMIM:114300
Galloway-Mowat Syndrome
Camptodactyly of finger, Hiatus hernia, Micrognathia, Abnormality of the dentition, Pachygyria, A... ORPHA:2065
Stromme Syndrome
Jejunal atresia, Intestinal malrotation, Optic nerve hypoplasia, Micrognathia, Cleft palate, Wide... OMIM:243605
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Pyloric stenosis OMIM:133705
Robinow Syndrome
Dental crowding, Micrognathia, Orofacial cleft, Fused thoracic vertebrae, Persistence of primary ... ORPHA:97360
Angelman Syndrome Due To A Point Mutation
Mandibular prognathia, Flat occiput, Protruding tongue, Wide mouth, Widely spaced teeth ORPHA:411511
Martin-Probst Syndrome
Micrognathia, Sensorineural hearing impairment, Thick lower lip vermilion, Dental malocclusion, W... OMIM:300519
Restrictive Dermopathy 1
Natal tooth, Micrognathia, Congenital pseudoarthrosis of the clavicle, Submucous cleft hard palat... OMIM:275210
Familial Visceral Myopathy
Low-set, posteriorly rotated ears, Round face, Aganglionic megacolon, Camptodactyly of finger, Mi... ORPHA:2604
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Coarse facial features, Ulnar deviation of the wrist, Grayish enamel, Cari... OMIM:253010
Lacrimoauriculodentodigital Syndrome 2
Conical tooth, Carious teeth, Cupped ear, Microtia, Hypodontia, Microdontia, Hearing impairment OMIM:620192
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Downturned corners of mout... ORPHA:1507
Trichothiodystrophy 3, Photosensitive
Tiger tail banding, Brittle hair, Trichorrhexis nodosa OMIM:616395
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology OMIM:615966
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Frontal bossing, Coarse facial features, Cloverleaf skull, Short metacarpal, Limited elbow moveme... ORPHA:508533
Takenouchi-Kosaki Syndrome
Thin upper lip vermilion, Posteriorly rotated ears, Sensorineural hearing impairment, Dental malo... OMIM:616737
Benign Samaritan Congenital Myopathy
Dolichocephaly, Narrow mouth ORPHA:324581
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Mandibular prognathia, Thin upper lip vermilion, Microretrognathia, Long face, Dolichocephaly, An... ORPHA:459070
2Q23.1 Microduplication Syndrome
Thin upper lip vermilion, Dental crowding, Abnormality of the dentition, Wide mouth, Abnormality ... ORPHA:313947
Singleton-Merten Syndrome 1
Thickened calvaria, Thin upper lip vermilion, Carious teeth, Hypoplasia of the maxilla, Hip dislo... OMIM:182250
Teebi-Shaltout Syndrome
Turricephaly, High, narrow palate, Scaphocephaly, Cleft palate, Wide mouth, Oligodontia, Low-set ... OMIM:272950
Atelosteogenesis Type Ii
Micromelia, Micrognathia, Short neck, Abnormal facial shape, Hypoplastic cervical vertebrae, Shor... ORPHA:56304
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Alopecia OMIM:618282
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Attached earlobe, Thin upper lip vermilion, Hip contracture, Coarse facial features, Posteriorly ... OMIM:619194
Barber-Say Syndrome
Delayed eruption of teeth, Abnormal pinna morphology, Wide mouth, Atresia of the external auditor... ORPHA:1231
Mosaic Trisomy 8
Long face, Frontal bossing, Abnormal pinna morphology, Camptodactyly of finger, Short neck, Micro... ORPHA:96061
Beemer-Ertbruggen Syndrome
Low-set, posteriorly rotated ears, Deep philtrum, Micrognathia ORPHA:1237
Cenani-Lenz Syndactyly Syndrome
Premature loss of permanent teeth, Hypoplasia of the ulna, Micrognathia, Hypoplasia of the radius... OMIM:212780
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Micrognathia, Short neck, Short metatarsal, Conductive hearing impair... OMIM:304120
Gomez-Lopez-Hernandez Syndrome
Alopecia OMIM:601853
Thrombocytopenia-Absent Radius Syndrome
Low-set, posteriorly rotated ears, Micrognathia, Aplasia/Hypoplasia of the patella, Absent radius... ORPHA:3320
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Brachycephaly, Chronic otitis media, Bifid uvula, ... OMIM:101200
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Frontal bossing, Posteriorly rotated ears, Optic nerve hypoplasia, Cleft upper lip, High, narrow ... OMIM:607597
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Wide mouth, Abnormal facial shape, Short middle phalanx of the 5th finger, Short distal phalanx o... OMIM:113477
Neu-Laxova Syndrome
Abnormality of the philtrum, Abnormal cortical gyration, Spina bifida, Micrognathia, Pachygyria, ... ORPHA:2671
Ane Syndrome
Hyperpigmented nevi, Alopecia, Hyperpigmentation of the skin ORPHA:157954
Polyendocrine-Polyneuropathy Syndrome
Alopecia ORPHA:453533
Menke-Hennekam Syndrome 2
Thin upper lip vermilion, Square face, Duodenal ulcer, Micrognathia, Deep philtrum, Agenesis of p... OMIM:618333
Developmental And Epileptic Encephalopathy 87
Wide mouth, High palate, Widely spaced teeth, U-Shaped upper lip vermilion, Midface retrusion OMIM:618916
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, Narrow mouth, Ankylogloss... ORPHA:89842
Chromosome 18Q Deletion Syndrome
Mandibular prognathia, Thin upper lip vermilion, Cleft upper lip, Short neck, Sensorineural heari... OMIM:601808
Coffin-Siris Syndrome 7
Thin upper lip vermilion, Coarse facial features, Posteriorly rotated ears, Sagittal craniosynost... OMIM:618027
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... OMIM:108760
Intellectual Developmental Disorder, Autosomal Dominant 57
Thin upper lip vermilion, Posteriorly rotated ears, Craniosynostosis, Contracture of the proximal... OMIM:618050
Severe Intellectual Disability And Progressive Spastic Paraplegia
Everted upper lip vermilion, Coarse facial features, Genu recurvatum, Wide mouth, High palate, Sh... ORPHA:280763
Genitopalatocardiac Syndrome
Micrognathia, Non-midline cleft lip, Cleft palate, Downturned corners of mouth, Low-set ears ORPHA:2075
Congenital Disorder Of Glycosylation, Type Im
Sparse eyebrow, Alopecia, Sparse eyelashes OMIM:610768
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Mandibular prognathia, Dental crowding, Abnormal pinna morphology, Short neck, High, narrow palat... OMIM:309583
Epidermolysis Bullosa, Junctional 1B, Severe
Pyloric stenosis OMIM:226700
Tarp Syndrome
Low-set, posteriorly rotated ears, Micrognathia, Pierre-Robin sequence, Optic atrophy, Alveolar r... ORPHA:2886
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Nephrotic Syndrome, Type 11
Micrognathia, Cleft lip, Cleft palate, High palate, Abnormal facial shape, Smooth philtrum OMIM:616730
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Micrognathia, Pyloric stenosis, Sensorineural hearing impairment, Cleft palate,... ORPHA:261197
Au-Kline Syndrome
Thickened nuchal skin fold, Prominent metopic ridge, Sagittal craniosynostosis, Craniosynostosis,... OMIM:616580
Orofaciodigital Syndrome Type 10
Cleft soft palate, Accessory oral frenulum, Micrognathia, Short neck, Tarsal synostosis, Short ti... ORPHA:2756
Spastic Paraplegia 47, Autosomal Recessive
Coarse facial features, Genu recurvatum, Wide mouth, High palate, Short philtrum, Acetabular dysp... OMIM:614066
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss
Sensorineural hearing impairment OMIM:267300
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Preauricular pit, High, narrow palate, Wide mouth, Downturned corners of mouth, Umbilical hernia,... OMIM:273390
Intellectual Disability, Buenos-Aires Type
Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair ORPHA:3079
Ctcf-Related Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Craniosynostosis, Abnormality of the... ORPHA:363611
Costello Syndrome
Deep-set nails, Generalized hyperpigmentation, Abnormal fingernail morphology, Concave nail, Abno... ORPHA:3071
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Abnormal midface morphology, Aplastic clavicle, Missing ribs, Carious teet... ORPHA:2769
Klippel-Feil Syndrome 1, Autosomal Dominant
Congenital muscular torticollis, Mixed hearing impairment, Facial asymmetry, Short neck, Sensorin... OMIM:118100
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Micrognathia, Cleft palate, Hydranencephaly, Pterygium, Cystic hygroma, Polymicrogyria OMIM:225790
Blomstrand Lethal Chondrodysplasia
Natal tooth, Short metacarpal, Rhizomelia, Aplastic clavicle, Micrognathia, Protruding tongue, Me... ORPHA:50945
Galloway-Mowat Syndrome 9
Coarse hair OMIM:619603
8Q24.3 Microdeletion Syndrome
Branchial cyst, Congenital hip dislocation, Hemifacial hypoplasia, Short neck, Micromelia, Cleft ... ORPHA:508488
Orofaciodigital Syndrome Type 4
Joint dislocation, Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate... ORPHA:2753
Neurodevelopmental Disorder With Spasticity And Poor Growth
Tented upper lip vermilion, Flat occiput, High, narrow palate, Knee flexion contracture, Full che... OMIM:618076
Lacrimoauriculodentodigital Syndrome 3
Carious teeth, Short thumb, Cupped ear, Xerostomia, Microtia, Widely spaced teeth, Enamel hypopla... OMIM:620193
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Narrow mouth, Perisylvian polymicrogyria, Optic atroph... OMIM:615663
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Craniosynostosis, Abnormality of the dentition, Cleft palate, Gingivit... ORPHA:2314
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Malar flattening, Enamel h... OMIM:618874
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Scaphocephaly, Cranial ... OMIM:614886
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Micrognathia, Sensorineural hearing impairment, High palate, Short philtrum, Malar flattening, Mi... OMIM:609944
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Short neck, Hypoplasia of the odontoid process, Pierre-Robin sequence, Hi... OMIM:183900
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Frontal open bite, Micrognathia, Delayed closure of the anterior fontanelle, Short toe, Gingival ... OMIM:225410
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Everted upper lip vermilion, Craniosynostosis, Full cheeks, Wide mouth, Microtia, Widely spaced t... OMIM:619056
Aymé-Gripp Syndrome
Thin upper lip vermilion, Prominent metopic ridge, Posteriorly rotated ears, Asymmetric crying fa... ORPHA:1272
Orofaciodigital Syndrome V
Thin upper lip vermilion, Frontal bossing, Median cleft lip, Aganglionic megacolon, Hamartoma of ... OMIM:174300
Orofaciodigital Syndrome Type 3
Abnormality of hair texture ORPHA:2752
Short-Rib Thoracic Dysplasia 12
Natal tooth, Median cleft lip, Posteriorly rotated ears, Intestinal malrotation, Hamartoma of ton... OMIM:269860
Immunodeficiency, Common Variable, 10
Trachyonychia, Alopecia totalis OMIM:615577
Omenn Syndrome
Alopecia, Aplasia/Hypoplasia of the eyebrow ORPHA:39041
Gm1-Gangliosidosis, Type Ii
Coarse facial features, Protruding tongue, Optic atrophy, Gingival overgrowth, Hypoplastic verteb... OMIM:230600
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Epistaxis, Impaired epinephri... OMIM:615888
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Frontal bossing, Abnormal pinna morphology, Esophageal diverticulum, Hamartoma of to... OMIM:617925
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Nail pits, Reticular hyperpigmentation, Premature graying of hair, Nail dy... OMIM:127550
Crane-Heise Syndrome
Low-set, posteriorly rotated ears, Hypoplastic scapulae, Aplastic clavicle, Micrognathia, Cleft p... ORPHA:1512
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Thin upper lip vermilion, Square face, Posteriorly rotated ears, Wide mouth, Prominent antihelix,... ORPHA:466950
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, Autoimmune thro... OMIM:603909
Atelosteogenesis Type I
Joint dislocation, Short femur, Rhizomelia, Micrognathia, Malrotation of colon, Cleft palate, Low... ORPHA:1190
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Bilateral conductive hearing impai... ORPHA:2010
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Posteriorly rotated ears, Protruding tongue, Submucous cleft hard palate, Wide m... OMIM:618106
Otofaciocervical Syndrome 1
Conductive hearing impairment, Mixed hearing impairment, Cupped ear, Hypoplasia of the cochlea OMIM:166780
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Short distal phalanx of toe, Frontal bossing, Coarse facial features, Brachycephaly, Wide mouth, ... ORPHA:1292
Developmental And Epileptic Encephalopathy 6B
Narrow mouth OMIM:619317
W Syndrome
Hypoplasia of the ulna, Elbow dislocation, Submucous cleft hard palate, Agenesis of maxillary cen... ORPHA:2804
Perrault Syndrome 2
Sensorineural hearing impairment OMIM:614926
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lymph node hypopl... OMIM:602450
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p... OMIM:600802
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Posteriorly rotated ears, Protruding tongue, Diastema, Absent frontal sinu... OMIM:301040
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
X-Linked Agammaglobulinemia
Alopecia, Hypopigmented skin patches ORPHA:47
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Coarse facial features, Short palm, Micrognathia, Pat... ORPHA:85201
Beckwith-Wiedemann Syndrome
Mandibular prognathia, Otosclerosis, Prominent metopic ridge, Abnormal midface morphology, Coarse... ORPHA:116
Melnick-Needles Syndrome
Delayed eruption of teeth, Obtuse angle of mandible, Short humerus, Hypoplastic scapulae, Microgn... OMIM:309350
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Micrognathia, Esophageal atresia, Triangular face, Smooth philtrum OMIM:614526
Feingold Syndrome
Micrognathia, External ear malformation, Esophageal atresia, Sensorineural hearing impairment, Or... ORPHA:1305
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Curly hair, Low anterior hairline, Long eyelashes, Horizontal eyebrow, High anterior hairline, Ca... OMIM:619950
Double Outlet Right Ventricle
Intestinal malrotation, Abnormality of cartilage of external ear, Submucous cleft hard palate, Cl... ORPHA:3426
Nizon-Isidor Syndrome
Thin upper lip vermilion, High, narrow palate, Downturned corners of mouth, Short philtrum, Evert... OMIM:618872
Lethal Congenital Contracture Syndrome 10
Torticollis, Stiff neck, Micrognathia, Short neck, Narrow palate, Macroglossia, High palate, Low-... OMIM:617022
Fibrous Dysplasia Of Bone
Abnormal occipital bone morphology, Abnormal zygomatic bone morphology, Abnormal facial skeleton ... ORPHA:249
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Small nail, Cafe-au-lait spot ORPHA:166035
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Broad jaw, Exaggerated cupid's bow, Micrognathia, Wide mouth, Macroglossia, High palate, Short pa... OMIM:614501
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Dislocated radial head, Micrognathia, Hypoplasia of the premaxilla, Mandibular condyle hypoplasia ORPHA:2975
Restrictive Dermopathy
Natal tooth, Aplasia/Hypoplasia of the clavicles, Camptodactyly of finger, Micrognathia, Large pl... ORPHA:1662
Kinsship Syndrome
Mandibular prognathia, Thin upper lip vermilion, Micrognathia, Short neck, Thick lower lip vermil... OMIM:619297
Ssr4-Cdg
Joint dislocation, Abnormality of upper lip vermillion, Wide mouth, Widely spaced teeth, Abnormal... ORPHA:370927
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... ORPHA:2494
Larsen Syndrome
Large joint dislocations, Craniosynostosis, Accessory carpal bones, Cleft palate, Conductive hear... ORPHA:503
Cole-Carpenter Syndrome
Delayed eruption of teeth, Frontal bossing, Turricephaly, Abnormal dental enamel morphology, Micr... ORPHA:2050
Dyskeratosis Congenita, Digenic
Abnormality of skin pigmentation, Alopecia, Sparse eyelashes, Nail dystrophy OMIM:620040
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short ear, Long face, Short palm, Posteriorly rotated ears, Hiatus hernia, Micrognathia, Thick lo... OMIM:614756
Acrodermatitis Enteropathica
Ridged nail, Abnormal eyebrow morphology, Alopecia, Paronychia, Ridged fingernail, Abnormality of... ORPHA:37
Meier-Gorlin Syndrome 6
Microretrognathia, Frontal bossing, Posteriorly rotated ears, Patellar aplasia, Simplified gyral ... OMIM:616835
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Thickened calvaria, Abnormal dental enamel morphology, Facial palsy, Aplas... ORPHA:2658
Usher Syndrome, Type Ig
Abnormal vestibular function, Sensorineural hearing impairment OMIM:606943
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Optic atrophy, Full cheeks, ... ORPHA:324540
Cornelia De Lange Syndrome 1
Micromelia, Micrognathia, Short neck, High, narrow palate, Brachycephaly, Downturned corners of m... OMIM:122470
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Polymicrogyria, Lissencephaly, Optic nerve hypoplasia, Narrow mouth OMIM:614833
Multiple Epiphyseal Dysplasia Type 4
Micrognathia, Short metatarsal, High palate, Double-layered patella, Hypoplastic cervical vertebr... ORPHA:93307
Gapo Syndrome
Frontal bossing, Facial palsy, Delayed closure of the anterior fontanelle, Micrognathia, High, na... OMIM:230740
Hutchinson-Gilford Progeria Syndrome
Short lingual frenulum, Dental crowding, Micrognathia, Osteoarthritis, High palate, Conductive he... ORPHA:740
Meckel Syndrome 12
Antecubital pterygium, Bifid uvula, Low-set ears, Micrognathia OMIM:616258
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Short neck, Brachycephaly, Downturned corners of mouth, Small earlobe, Parietal bos... OMIM:264090
X-Linked Intellectual Disability, Pai Type
Protruding ear, Narrow mouth ORPHA:85322
Lethal Acantholytic Erosive Disorder
Abnormal helix morphology, Natal tooth, Abnormal pinna morphology, Cleft palate ORPHA:158687
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Redundant neck skin, Abnormal pinna morphology, Micrognathia, Short neck, Pierre-Robin sequence, ... OMIM:217980
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Coarse hair, Thick eyebrow ORPHA:585
Orofaciodigital Syndrome Type 14
Microretrognathia, Low-set, posteriorly rotated ears, Hamartoma of tongue, Accessory oral frenulu... ORPHA:434179
Dentici-Novelli Neurodevelopmental Syndrome
Thin upper lip vermilion, Simplified gyral pattern, Wide mouth, Widely spaced teeth, Macrotia, He... OMIM:619877
Developmental And Epileptic Encephalopathy 89
Microretrognathia, Thin upper lip vermilion, Asymmetry of the ears, Cleft palate, Limb undergrowt... OMIM:619124
Immunodeficiency 7
Patchy alopecia, Vitiligo OMIM:615387
Chromosome 16P13.3 Duplication Syndrome
Tented upper lip vermilion, Micrognathia, Short neck, Protruding ear, Microdontia, Bifid uvula, L... OMIM:613458
Burning Mouth Syndrome
Abnormality of taste sensation, Parageusia, Abnormal fifth cranial nerve morphology, Abnormality ... ORPHA:353253
Oculocerebrocutaneous Syndrome
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches ORPHA:1647
Pfeiffer Syndrome Type 2
Cloverleaf skull, Intestinal malrotation, Short hallux, Small hand, Cleft palate, Short foot, Hig... ORPHA:93259
Pitt-Hopkins Syndrome
Coarse facial features, Aganglionic megacolon, Hiatus hernia, Short neck, Short metatarsal, Small... ORPHA:2896
Frank-Ter Haar Syndrome
Thin upper lip vermilion, Coarse facial features, Redundant neck skin, Flat occiput, Micrognathia... OMIM:249420
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... OMIM:612447
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Preauricular pit, Torticollis, Turricephaly, Short neck, Micrognathia, Short thumb, Wide mouth, P... OMIM:620224
Seckel Syndrome
Narrow face, Abnormal dental enamel morphology, Craniosynostosis, Micrognathia, Abnormal earlobe ... ORPHA:808
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Hypohidrosis, Sparse hair OMIM:613451
Halperin-Birk Syndrome
Micrognathia, Optic atrophy, Hip dislocation, Thick vermilion border, High palate, Umbilical hern... OMIM:618651
Ruvalcaba Syndrome
Short metacarpal, Dental crowding, Micromelia, Abnormality of the elbow, Small hand, Thin vermili... ORPHA:3121
Autosomal Dominant Robinow Syndrome
Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormality of the gingiva, Downturned... ORPHA:3107
Athrombia, Essential
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion OMIM:209050
Schneckenbecken Dysplasia
Hypoplastic scapulae, Short neck, Advanced ossification of carpal bones, Cleft palate, Flat aceta... OMIM:269250
Bainbridge-Ropers Syndrome
Thin upper lip vermilion, Dental crowding, Intestinal malrotation, Posteriorly rotated ears, Micr... OMIM:615485
Cerebrofaciothoracic Dysplasia
Abnormal hair pattern, Synophrys, Low posterior hairline, Coarse hair, Thick eyebrow ORPHA:1394
Aicardi Syndrome
Prominence of the premaxilla, Block vertebrae, Spina bifida, Hiatus hernia, Cleft upper lip, Miss... OMIM:304050
Costello Syndrome
Deep-set nails, Curly hair, Hyperpigmentation of the skin, Thin nail, Concave nail, Sparse hair, ... OMIM:218040
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Micrognathia, Pyloric stenosis, Contracture of the distal interphalangeal joint of the fingers, C... ORPHA:83617
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Frontal bossing, Torticollis, Exaggerated cupid's bow, Posteriorly rotated ears, Spina bifida, Do... OMIM:619480
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Thin upper lip vermilion, Downturned corners of mouth, Lobulated tongue, Short philtrum, Low-set ... OMIM:613443
2Q31.1 Microdeletion Syndrome
Short palm, Prominent metopic ridge, Narrow face, Coarse facial features, Camptodactyly of finger... ORPHA:251014
Galloway-Mowat Syndrome 1
Flat occiput, Micrognathia, Hiatus hernia, Pachygyria, Optic atrophy, Wide mouth, Joint contractu... OMIM:251300
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Dental crowding, Pierre-Robin sequence, Cleft palate, Oligodontia, Thick vermil... OMIM:619184
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormality of hair texture ORPHA:88618
Cardiofacioneurodevelopmental Syndrome
Cleft lip, Protruding ear, Cleft palate, Micrognathia OMIM:619123
Holocarboxylase Synthetase Deficiency
Alopecia OMIM:253270
Mandibuloacral Dysplasia Progeroid Syndrome
Frontal bossing, Micrognathia, Intra-oral hyperpigmentation, Brachycephaly, Genu valgum, High pal... OMIM:619127
Congenital Disorder Of Glycosylation, Type Il
Frontal bossing, Short neck, Hip dislocation, Brachycephaly, Wide mouth, Low-set ears, Long philt... OMIM:608776
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
High, narrow palate, Brachycephaly, Anteriorly placed anus, Conductive hearing impairment, Abnorm... ORPHA:95699
Isotretinoin-Like Syndrome
Hydrocephalus, Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Atresia of the external aud... ORPHA:2306
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Hearing abn... ORPHA:1352
Frontometaphyseal Dysplasia
Limited elbow movement, Micrognathia, Short metatarsal, Oligodontia, Conductive hearing impairmen... ORPHA:1826
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Mixed hearing impairment, Frontal bossing, Block vertebrae, Tarsal synostosis, ... OMIM:272460
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Stuve-Wiedemann Syndrome 1
Pursed lips, Square face, Enlarged joints, Frontal bossing, Micrognathia, Carious teeth, Short ne... OMIM:601559
Primary Pulmonary Hypoplasia
Low-set ears, Patellar hypoplasia, Cleft palate, Micrognathia ORPHA:2257
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Natal tooth, Short philtrum, Cleft palate OMIM:617337
Hartnup Disorder
Glossitis OMIM:234500
Phocomelia, Schinzel Type
Micromelia, Micrognathia, Short neck, High, narrow palate, Aplasia of the ulna, Meningocele, Hume... ORPHA:2879
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... ORPHA:544488
Intellectual Developmental Disorder, Autosomal Dominant 68
Frontal bossing, Posteriorly rotated ears, Full cheeks, Wide mouth, High palate, Joint contractur... OMIM:619934
Thakker-Donnai Syndrome
Posteriorly rotated ears, Short neck, Tracheoesophageal fistula, Webbed neck, Downturned corners ... ORPHA:1780
Cole-Carpenter Syndrome 1
Frontal bossing, Wormian bones, Micrognathia, Midface retrusion, Microdontia, Coronal craniosynos... OMIM:112240
Okur-Chung Neurodevelopmental Syndrome
Thin upper lip vermilion, Micrognathia, Protruding tongue, Cupped ear, Simplified gyral pattern, ... OMIM:617062
Intellectual Developmental Disorder, X-Linked 103
Wide mouth, Coarse facial features, Polymicrogyria, Short palm OMIM:300982
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
White hair, Fine hair ORPHA:935
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Frontal bossing, Dental crowding, High, narrow palate, Wide mouth, Widely spaced teeth, Short phi... OMIM:300967
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Pyloric stenosis, High palate ORPHA:314575
Deafness-Craniofacial Syndrome
Frontal bossing, Short lingual frenulum, Abnormality of the dentition, Sensorineural hearing impa... ORPHA:3241
Short Syndrome
Sparse hair, Alopecia ORPHA:3163
Say-Barber-Miller Syndrome
Low-set, posteriorly rotated ears, Craniosynostosis, Micrognathia, Carious teeth, Optic atrophy, ... ORPHA:3132
Bosma Arhinia Microphthalmia Syndrome
Paranasal sinus hypoplasia, Abnormal pinna morphology, Absent tragus, Cleft lip, Dental malocclus... OMIM:603457
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Brittle hair, Hypopigmentation of the skin OMIM:236200
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal facial shape, Abnormality of primary teeth, Gingivitis, Narrow mouth ORPHA:75496
Schimmelpenning-Feuerstein-Mims Syndrome
Alopecia, Hypopigmentation of the skin OMIM:163200
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Mandibular prognathia, Limitation of movement at ankles, Flat occiput, Protruding tongue, Wide mo... ORPHA:98794
Cartilage-Hair Hypoplasia
Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair OMIM:250250
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Diastema, Wide mouth, Short distal phalanx of finger OMIM:618470
Slc35A1-Cdg
Prolonged bleeding time, Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopen... ORPHA:238459
Progressive Non-Infectious Anterior Vertebral Fusion
Proximal radio-ulnar synostosis, Round face, Micrognathia, Brachycephaly, Wide mouth, Thin vermil... ORPHA:2062
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia OMIM:304790
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Frontal bossing, Anal stenosis, Coarse facial features, Posteriorly rotated ears, Micrognathia, C... OMIM:614080
Desmosterolosis
Frontal bossing, Posteriorly rotated ears, Rhizomelia, Micrognathia, Cupped ear, Gingival fibroma... OMIM:602398
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia ORPHA:93160
Meier-Gorlin Syndrome 7
Anal stenosis, Sagittal craniosynostosis, Craniosynostosis, Aplasia/Hypoplasia of the patella, Se... OMIM:617063
Cat Eye Syndrome
Preauricular pit, Anal stenosis, Intestinal malrotation, Rectal fistula, Micrognathia, Preauricul... OMIM:115470
Ogden Syndrome
Aplasia/Hypoplasia of the eyebrow, Fine hair ORPHA:276432
Aica-Ribosuria Due To Atic Deficiency
Thin upper lip vermilion, Prominent metopic ridge, Frontal bossing, Optic atrophy, Brachycephaly,... OMIM:608688
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy, Optic atrophy ORPHA:216873
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Sparse hair, Nail dysplasia, Aplasia/Hypoplasia of the eyebrow, Fine hair OMIM:614091
Periventricular Nodular Heterotopia
Pyloric stenosis, Gastroesophageal reflux ORPHA:98892
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Prolonged bleeding time, Acute monocytic leukemia, Epistaxis, Impaired pl... OMIM:601399
Developmental Delay With Or Without Dysmorphic Facies And Autism
Thin upper lip vermilion, Posteriorly rotated ears, Micrognathia, Cleft lip, Optic disc coloboma,... OMIM:618454
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Pyloric stenosis, Intestinal pseudo-obstruction, Intestinal... OMIM:300048
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Decreased proportion of naive T cells, Lymph node hypoplasia, Abnormally low T cell ... ORPHA:276
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Posteriorly rotated ears, Missing ... ORPHA:2759
Macrocephaly/Autism Syndrome
Coarse hair OMIM:605309
Congenital Myopathy 13
Micrognathia, Brachycephaly, Cleft palate, Downturned corners of mouth, High palate, Low-set ears... OMIM:255995
Native American Myopathy
Micrognathia, Conductive hearing impairment, Cleft palate, Downturned corners of mouth, High pala... ORPHA:168572
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Microretrognathia, Hip contracture, Small hand, Cleft palate, Knee flexion contracture, Downturne... ORPHA:488642
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Breast aplasia, Hyperpigmentation of the... ORPHA:90153
Distal 16P11.2 Microdeletion Syndrome
Oval face, Aganglionic megacolon, Narrow mouth ORPHA:261222
Rothmund-Thomson Syndrome, Type 2
Delayed eruption of teeth, Mandibular prognathia, Frontal bossing, Congenital hip dislocation, Un... OMIM:268400
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Alopecia ORPHA:412057
Myh9-Related Disease
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Increased mean platelet volume, Myocar... ORPHA:182050
Leukocyte Adhesion Deficiency Type Ii
Mandibular prognathia, Coarse facial features, Small earlobe, Severe periodontitis, Protruding to... ORPHA:99843
Gray Platelet Syndrome
Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal numb... OMIM:139090
Johanson-Blizzard Syndrome
Alopecia, Abnormal hair pattern ORPHA:2315
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Natal tooth, Dental crowding, Intestinal malrotation, Carious teeth, Supernumerary tooth, Talon c... ORPHA:353281
Rabson-Mendenhall Syndrome
Mandibular prognathia, Coarse facial features, Dental crowding, Abnormality of the dentition, Gin... ORPHA:769
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Facial palsy, Furrowed tongue ORPHA:2743
Monosomy 18Q
Mandibular prognathia, Sensorineural hearing impairment, Downturned corners of mouth, Wide mouth,... ORPHA:1600
Adams-Oliver Syndrome
Alopecia, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Hypoplastic fingernail ORPHA:974
Smith-Mccort Dysplasia 1
Short metacarpal, Hypoplastic scapulae, Short neck, Hypoplasia of the odontoid process, Hypoplast... OMIM:607326
Frontofacionasal Dysplasia
Cleft upper lip, Brachycephaly, Orofacial cleft, Midface retrusion, Cranium bifidum occultum, Mal... OMIM:229400
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor, Frontal bossing OMIM:300291
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Micrognathia, Cle... OMIM:236670
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis OMIM:614876
Campomelic Dysplasia
11 pairs of ribs, Small abnormally formed scapulae, Short neck, Micrognathia, Hip dislocation, Cl... ORPHA:140
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... ORPHA:572
Essential Thrombocythemia
Prolonged bleeding time, Transient ischemic attack, Myocardial infarction, Splenomegaly, Abnormal... ORPHA:3318
Dubowitz Syndrome
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Anal stenosis, Narrow face, Aplasia... ORPHA:235
Incontinentia Pigmenti
Alopecia, Abnormal fingernail morphology, Supernumerary nipple, Abnormal hair morphology, Broad n... ORPHA:464
Loeys-Dietz Syndrome 5
Tented upper lip vermilion, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus... OMIM:615582
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Hearing impairment, Micrognathia... OMIM:301043
Bleeding Disorder, Platelet-Type, 17
Gastrointestinal hemorrhage, Prolonged bleeding time, Increased RBC distribution width, Epistaxis... OMIM:187900
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Tented upper lip vermilion, Exaggerated cupid's bow, High, narrow palate, ... ORPHA:464738
Schuurs-Hoeijmakers Syndrome
Thin upper lip vermilion, Diastema, Downturned corners of mouth, Wide mouth, Low-set ears, Volvul... OMIM:615009
Jansen-De Vries Syndrome
Thin upper lip vermilion, Posteriorly rotated ears, Parietal foramina, Small hand, Wide mouth, Sh... OMIM:617450
Hartsfield Syndrome
Median cleft lip, Posteriorly rotated ears, Craniosynostosis, Cleft upper lip, Cleft palate, Low-... OMIM:615465
Toriello-Carey Syndrome
Aganglionic megacolon, Abnormal pinna morphology, Micrognathia, Short neck, Cleft palate, Full ch... ORPHA:3338
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Microtia, Hearing Impairment, And Cleft Palate
Increased incisura length, Mixed hearing impairment, Cleft palate, Stenosis of the external audit... OMIM:612290
Chilton-Okur-Chung Neurodevelopmental Syndrome
Mandibular prognathia, Septo-optic dysplasia, Short fourth metatarsal, Uplifted earlobe, Microgna... OMIM:619841
Tenorio Syndrome
Mandibular prognathia, Wide mouth, Macroglossia, Recurrent aphthous stomatitis, Delayed cranial s... OMIM:616260
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tongue atrophy, Knee flexion contracture ORPHA:496689
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Mongolian blue spot, Dry hair, Low anterior hairline OMIM:618569
Wiedemann-Rautenstrauch Syndrome
Abnormality of the ear, Downturned corners of mouth, Hypoplastic vertebral bodies, Short philtrum... ORPHA:3455
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Argininosuccinic Aciduria
Dry hair, Brittle hair, Trichorrhexis nodosa OMIM:207900
White-Kernohan Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Macrotia, Full cheeks, Wide mouth, Anterior... OMIM:619426
Distal Deletion 15Q
Thin upper lip vermilion, Coarse facial features, Flat occiput, Short distal phalanx of finger, A... ORPHA:1596
Warsaw Breakage Syndrome
Hypoplasia of the cochlea, Optic disc coloboma, Cupped ear, Wide mouth, High palate, Small face, ... OMIM:613398
Aica-Ribosiduria
Wide mouth, Thin upper lip vermilion, Brachycephaly, Low-set ears ORPHA:250977
Faciocardiomelic Syndrome
Micrognathia, Dental malocclusion, Wide mouth, Long philtrum, Hyperplasia of the maxilla OMIM:612731
1P21.3 Microdeletion Syndrome
Wide mouth, Long ear, Full cheeks, Micrognathia ORPHA:293948
Plummer-Vinson Syndrome
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Glossitis ORPHA:54028
Gapo Syndrome
Alopecia, Sparse eyelashes, Sparse eyebrow, Early balding, Hypopigmented skin patches ORPHA:2067
Distal Deletion 9P
Low-set, posteriorly rotated ears, Short neck, Abnormality of the dentition, High, narrow palate,... ORPHA:1642
6Q Terminal Deletion Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the ribs, Prominent metopic ridge, Short... ORPHA:75857
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormality of hair texture ORPHA:96169
15q26 overgrowth syndrome
Mandibular prognathia, Abnormal pinna morphology, Camptodactyly of finger, Craniosynostosis, Micr... DECIPHER:81
Chronic Beryllium Disease
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells ORPHA:133
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Decreased p... ORPHA:760
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Narrow internal auditory canal, Facial asymmetry, Short neck, Mi... ORPHA:233
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Multiple joint dislocation, ... OMIM:619503
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Flat occiput, Protruding tongue, Gingival overgrowth, Brachycephaly, Wide mouth, Gray matter hete... OMIM:618797
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Frontal bossing, Abnormality of the dentition, Micrognathia, Macrotia, Sen... OMIM:151050
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Pyloric stenosis OMIM:617219
Isolated Exencephaly
Low-set ears, Abnormal calvaria morphology, Abnormal facial skeleton morphology, Hypoplasia of th... ORPHA:563612
Mosaic Variegated Aneuploidy Syndrome 1
Posteriorly rotated ears, Micrognathia, Short neck, Brachycephaly, Cleft palate, Short sternum, L... OMIM:257300
Van Esch-O'Driscoll Syndrome
Esophageal atresia, Spina bifida occulta, Tracheoesophageal fistula, Protruding ear, Downturned c... OMIM:301030
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Omenn Syndrome
Alopecia OMIM:603554
Larsen Syndrome
Vertebral fusion, Frontal bossing, Short metacarpal, Cleft upper lip, Elbow dislocation, Dislocat... OMIM:150250
Ring Chromosome 22 Syndrome
Protruding tongue, Neurofibroma, Full cheeks, Thick vermilion border, Dolichocephaly, Macrotia, M... ORPHA:1446
Opitz Gbbb Syndrome
Preauricular pit, Natal tooth, Prominent metopic ridge, Posteriorly rotated ears, Craniosynostosi... ORPHA:2745
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Short femur, Micromelia, Micrognathia, Cleft upper lip, Cleft pa... OMIM:211350
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Lacrimoauriculodentodigital Syndrome 1
Hypoplasia of the ulna, Mixed hearing impairment, Absence of Stensen duct, Delayed eruption of pr... OMIM:149730
Cranioectodermal Dysplasia 3
Sparse hair, Broad nail, Short nail, Fine hair OMIM:614099
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia OMIM:210210
Immunodeficiency 40
T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia OMIM:616433
Multiple Synostoses Syndrome 4
Otosclerosis, Tarsal synostosis OMIM:617898
Cutis Laxa, Autosomal Recessive, Type Ib
Prominence of the premaxilla, Abnormal pinna morphology, Micrognathia, High palate, Low-set ears OMIM:614437
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Posteriorly rotated ears, Micrognathia, Preauricular skin tag, Cupped ear, B... ORPHA:264200
Chromosome 1P36 Deletion Syndrome, Proximal
Frontal bossing, Posteriorly rotated ears, Micrognathia, Cleft lip, Cleft palate, High palate, Lo... OMIM:619343
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Tented upper lip vermilion, Micrognathia, Short neck, Widely-spaced maxillary central incisors, H... OMIM:309580
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity, Camptodactyly of finger, Micromelia, Furrowed tongue ORPHA:2928
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Ververi-Brady Syndrome
Thin upper lip vermilion, Cupped ear, Wide mouth, Everted lower lip vermilion, High palate, Low-s... OMIM:617982
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula ORPHA:2736
Macs Syndrome
Sparse hair, Alopecia, Sparse eyebrow OMIM:613075
Cutis Laxa, Autosomal Recessive, Type Iiib
Sparse hair, Fine hair OMIM:614438
Distal Deletion 12Q
Micrognathia, Short neck, High, narrow palate, Brachycephaly, Abnormal facial shape, Esophageal a... ORPHA:96149
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Uplifted earlobe, Brachycephaly, Short philtrum, Widely spaced teeth, Conductive hearing impairme... OMIM:280000
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly ORPHA:169160
Linear Nevus Sebaceus Syndrome
Alopecia, Irregular hyperpigmentation, Melanocytic nevus ORPHA:2612
Holzgreve Syndrome
Low-set, posteriorly rotated ears, Turricephaly, Aplasia/Hypoplasia of the tongue, Macrotia, Clef... ORPHA:2167
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Redundant neck skin, Aplasia/Hypoplasia of the scapu... ORPHA:3472
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Micrognathia, Short neck, Short metatarsal, Widely spaced teeth, High palate, Microdontia, Bifid ... OMIM:266920
Encephalocraniocutaneous Lipomatosis
Alopecia, Linear hyperpigmentation OMIM:613001
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Pyloric sten... ORPHA:169189
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, I... ORPHA:3226
Solar Urticaria
Vertigo, Abnormal lip morphology, Abnormal tongue morphology ORPHA:97230
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Sensorineural hearing impairment, Spinal dysraphism, Incomplete partition of the cochlea type II OMIM:617660
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Craniosynostosis, Micrognathia, Cleft upper lip, Short neck, Ext... ORPHA:3103
Prader-Willi Syndrome Due To Translocation
Thin upper lip vermilion, Flat occiput, Micrognathia, Carious teeth, Short neck, Small hand, Alve... ORPHA:177907
Mogs-Cdg
Alopecia, Fair hair, Long eyelashes, Hirsutism ORPHA:79330
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo... ORPHA:2232
Velocardiofacial Syndrome
Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequence, Abnormality of ... OMIM:192430
Mucopolysaccharidosis-Plus Syndrome
Synophrys, Low anterior hairline, Low posterior hairline, Coarse hair, Long eyelashes, Hirsutism OMIM:617303
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Pyloric stenosis, Elbow flexion contracture, Increased variability in ... OMIM:619461
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Thin upper lip vermilion, Diastema, Protruding ear, Downturned corners of mouth, Wide mouth, Low-... ORPHA:329224
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Posterior plagiocephaly, Oligodontia, Widely spaced teeth, Short 4th toe, Mi... OMIM:615873
Mend Syndrome
Thickened nuchal skin fold, Abnormal auditory evoked potentials, Micrognathia, Asymmetry of the m... ORPHA:401973
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Short neck, Open bite, Thick lower lip vermilion, Small hand, Abnormal e... ORPHA:85293
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Frontal bossing, Posteriorly rotated ears, Abnormal pinna morphology, Micrognathia, Cleft lip, Se... OMIM:616975
Biotinidase Deficiency
Alopecia OMIM:253260
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Patchy alopecia OMIM:617763
Paternal Uniparental Disomy Of Chromosome 6
Micrognathia, Gingival overgrowth, Abnormal earlobe morphology, Prominent occiput, Macroglossia, ... ORPHA:96191
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Posteriorly rotated ears, Micrognathia, Multiple enchondromatosis, Adenocarcinoma of the colon, M... OMIM:620189
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding, Microcytic anemia ORPHA:1059
Tooth Agenesis, Selective, 4
Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ... OMIM:150400
Craniofacioskeletal Syndrome
Thin upper lip vermilion, Posteriorly rotated ears, Micrognathia, Hypoplastic frontal sinuses, Sm... OMIM:300712
Fryns Syndrome
Tented upper lip vermilion, Short neck, Microretrognathia, Cleft upper lip, Esophageal atresia, S... OMIM:229850
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Tented upper lip vermilion, Dental m... ORPHA:487796
Autosomal Dominant Hypocalcemia
Alopecia, Irregular hyperpigmentation, Abnormal fingernail morphology, Abnormality of the nail ORPHA:428
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Abnormality of hair texture ORPHA:79351
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Micrognathia, Short neck, Esophageal atresia, Absent thumb, Absent radius, Tr... OMIM:614083
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Congenital sensorineural hearing impairment, Long philtrum, Sensorineural hearing impairment, Nar... OMIM:619147
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:612199
Roberts-Sc Phocomelia Syndrome
Micrognathia, Short neck, Brachycephaly, Tetraphocomelia, Knee flexion contracture, High palate, ... OMIM:268300
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Wide mouth, Overfolded helix, Brachycephaly OMIM:616083
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Juvenile Polyposis Of Infancy
Frontal bossing, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis, Hamartomato... ORPHA:79076
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Alopecia totalis OMIM:618775
Cranioectodermal Dysplasia 2
Micrognathia, Short neck, Fused teeth, High palate, Widely spaced teeth, Microdontia, Simple ear,... OMIM:613610
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Diffuse cerebral atrophy, Vestibular areflexia ORPHA:3240
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Micrognathia, Dental malocclusion, Localized hypoplasia of dental enamel, Conical incisor, Thin v... ORPHA:73223
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Gand Syndrome
Wide mouth, Thin upper lip vermilion, Short philtrum OMIM:615074
Myasthenic Syndrome, Congenital, 10
Tongue atrophy OMIM:254300
Porphyria, Congenital Erythropoietic
Absent eyebrow, Alopecia, Loss of eyelashes, Hypopigmentation of the skin, Hyperpigmentation of t... OMIM:263700
Chime Syndrome
Abnormal dental morphology, Aplastic clavicle, Abnormality of the dentition, Supernumerary tooth,... ORPHA:3474
Angelman Syndrome
Mandibular prognathia, Optic disc pallor, Flat occiput, Protruding tongue, Optic atrophy, Wide mo... ORPHA:72
Radio-Renal Syndrome
Micromelia, Short neck, Micrognathia, High, narrow palate, Abnormality of the elbow, Hypoplasia o... ORPHA:3015
Chromosome 13Q14 Deletion Syndrome
Thin upper lip vermilion, Frontal bossing, Micrognathia, Anteverted ears, Deep philtrum, Hip disl... OMIM:613884
Progeria-Short Stature-Pigmented Nevi Syndrome
Hyperpigmented nevi, Alopecia, Low posterior hairline ORPHA:2959
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Cleft soft palate, Facial asymmetry, Short neck, Micrognathia, Microtia, Submucous cleft soft pal... ORPHA:2282
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Limb-Mammary Syndrome
Alopecia, Absent nipple, Sparse eyebrow, Hypohidrosis, Bilateral breast hypoplasia, Breast aplasi... ORPHA:69085
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Coarse hair, Nail dysplasia OMIM:612394
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Hyperpigmentation of the skin, Depigmentation/hyperpigmentation of skin, Generalized re... ORPHA:79396
Pgm3-Cdg
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... ORPHA:443811
Dominant Beta-Thalassemia
Frontal bossing, Malar prominence, Abnormality of the dentition, Genu valgum, Hyperplasia of the ... ORPHA:231226
Ring Chromosome 13 Syndrome
Frontal bossing, Aplasia/Hypoplasia of the thumb, Posteriorly rotated ears, Partial absence of fo... ORPHA:96176
16P13.11 Microdeletion Syndrome
Thin upper lip vermilion, Exaggerated cupid's bow, Camptodactyly of finger, Cleft upper lip, Sens... ORPHA:261236
Dyggve-Melchior-Clausen Disease
Mandibular prognathia, Coarse facial features, Short metacarpal, Hypoplastic scapulae, Short neck... OMIM:223800
Arthrogryposis And Ectodermal Dysplasia
Abnormal dental enamel morphology, Cleft upper lip, Brachycephaly, Cleft palate, Orofacial cleft,... OMIM:601701
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Sparse hair, Brittle hair, Fine hair OMIM:618891
Generalized Arterial Calcification Of Infancy
Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular cartilage, Abnormality... ORPHA:51608
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Abnormal lymphocyte count, Absence of lymph node germinal center, Thrombocytopenia,... ORPHA:79124
Autosomal Dominant Popliteal Pterygium Syndrome
Thin upper lip vermilion, Lip pit, Micrognathia, Non-midline cleft lip, Fibrous syngnathia, Cleft... ORPHA:1300
Smith-Lemli-Opitz Syndrome
Micrognathia, Short neck, Biparietal narrowing, Advanced eruption of teeth, Low-set, posteriorly ... ORPHA:818
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Alopecia, Hyperpigmentation of the skin, Hirsutism ORPHA:90795
Holoprosencephaly 3
Proboscis, Cleft lip, Cleft palate, Midface retrusion, Solitary median maxillary central incisor,... OMIM:142945
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Brittle hair OMIM:616084
Vacterl With Hydrocephalus
Absence of the sacrum, Microtia, third degree, Spina bifida, Micrognathia, Esophageal atresia, Hy... ORPHA:3412
Schimke Immunoosseous Dysplasia
Coarse hair, Hypermelanotic macule, Fine hair OMIM:242900
Pallister-Hall Syndrome
Natal tooth, Posteriorly rotated ears, Cleft upper lip, Radial head subluxation, Hip dislocation,... OMIM:146510
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... ORPHA:35078
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Natal tooth, Dental crowding, Intestinal malrotation, Micrognathia, Carious teeth, Supernumerary ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Natal tooth, Dental crowding, Intestinal malrotation, Micrognathia, Carious teeth, Supernumerary ... ORPHA:353277
Floating-Harbor Syndrome
Short neck, Short middle phalanx of the 2nd finger, Downturned corners of mouth, Short philtrum, ... OMIM:136140
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... ORPHA:101085
Down Syndrome
Thickened nuchal skin fold, Redundant neck skin, Aganglionic megacolon, Protruding tongue, Short ... OMIM:190685
Alg9-Cdg
Microretrognathia, Thin upper lip vermilion, Villous atrophy, Torticollis, Thickened nuchal skin ... ORPHA:79328
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Sparse hair, Coarse hair, Thick hair ORPHA:357074
Oculocerebral Hypopigmentation Syndrome, Cross Type
Narrow mouth, Sensorineural hearing impairment, Dolichocephaly, Microdontia, Abnormal palate morp... ORPHA:2719
Coffin-Siris Syndrome 5
Thin upper lip vermilion, Coarse facial features, Thick lower lip vermilion, Wide mouth, Short ph... OMIM:616938
Woodhouse-Sakati Syndrome
Sparse hair, Alopecia, Fine hair OMIM:241080
Galloway-Mowat Syndrome 6
Downturned corners of mouth, Microdontia, Wide mouth, High palate OMIM:618347
Bilateral Perisylvian Polymicrogyria
Micrognathia, Protruding tongue, Perisylvian predominant thick cortex pachygyria, Abnormality of ... ORPHA:98889
Neutral Lipid Storage Disease With Ichthyosis
Alopecia ORPHA:98907
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Spotty hyperpigmen... OMIM:614008
Trisomy 20P
Thick hair, Highly arched eyebrow, Low anterior hairline, Low posterior hairline, Coarse hair, Th... ORPHA:261318
Alstrom Syndrome
Pigmentary retinopathy, Alopecia OMIM:203800
Mucolipidosis Ii Alpha/Beta
Coarse facial features, Hypoplastic scapulae, Craniosynostosis, Micrognathia, Trigonocephaly, Mye... OMIM:252500
Spastic Paraplegia 52, Autosomal Recessive
Coarse facial features, Wide mouth, Thick vermilion border, High palate, Short philtrum OMIM:614067
Pediatric Systemic Lupus Erythematosus
Alopecia ORPHA:93552
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Tongue atrophy, Axonal degeneration OMIM:616155
Platelet Disorder, Undefined
Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Epistaxis OMIM:614158
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... ORPHA:99027
Koolen-De Vries Syndrome
Fair hair, Iris hypopigmentation, Abnormality of hair texture OMIM:610443
Adenylosuccinase Deficiency
Thin upper lip vermilion, Prominent metopic ridge, Brachycephaly, Wide mouth, Low-set ears, Long ... OMIM:103050
Leopard Syndrome 1
Mandibular prognathia, Posteriorly rotated ears, Limited elbow movement, Short neck, Missing ribs... OMIM:151100
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Alopecia, Alopecia totalis, Nail dystrophy, Abnormality of the periungual region, Vitiligo ORPHA:293978
Giant Cell Arteritis
Alopecia, Hyperhidrosis ORPHA:397
Perlman Syndrome
Everted upper lip vermilion, Tented upper lip vermilion, Distal ileal atresia, Micrognathia, Volv... OMIM:267000
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Curly hair, Hypoplastic nipples, Depigmentation/hyperpigmentation of skin, Hypertrichosis ORPHA:480880
Peters Plus Syndrome
Micromelia, Micrognathia, Short neck, Brachycephaly, Widely spaced teeth, Conductive hearing impa... ORPHA:709
Autoimmune Polyendocrine Syndrome, Type Ii
Alopecia OMIM:269200
Meckel Syndrome
Encephalocele, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Micrognathia,... ORPHA:564
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Multiple cafe-au-lait spots, Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow, Fine ... ORPHA:2637
Distal Renal Tubular Acidosis
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Renal cyst ORPHA:18
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Hearing abnormality, Meningocele, Protruding ear, Glossoptosis... ORPHA:2031
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Alopecia universalis ORPHA:363618
Omodysplasia 1
Micrognathia, Short neck, Limited elbow flexion, Short tibia, Rhizomelia, Limited knee flexion/ex... OMIM:258315
Mucopolysaccharidosis, Type Iiid
Synophrys, Hirsutism, Coarse hair, Facial hirsutism, Thick eyebrow OMIM:252940
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Hirsutism ORPHA:189427
Mesomelia-Synostoses Syndrome
Microretrognathia, Micromelia, Micrognathia, Short metatarsal, Carpometacarpal synostosis, Short ... OMIM:600383
Temple-Baraitser Syndrome
Downturned corners of mouth, Wide mouth, Thick vermilion border, Long philtrum, Short distal phal... OMIM:611816
Mycophenolate Mofetil Embryopathy
Micrognathia, Tracheoesophageal fistula, Orofacial cleft, Microtia, Anotia, Atresia of the extern... ORPHA:268249
Coffin-Siris Syndrome 1
Conical tooth, Brachycephaly, Short philtrum, High palate, Microdontia, Spina bifida occulta, Dis... OMIM:135900
Otosclerosis 1
Conductive hearing impairment, Otosclerosis OMIM:166800
Mixed Connective Tissue Disease
Alopecia ORPHA:809
H Syndrome
Abnormal eyebrow morphology, Alopecia, Hyperpigmentation of the skin, Hypertrichosis ORPHA:168569
Spondyloepimetaphyseal Dysplasia, X-Linked
Short metacarpal, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Flat acetabular ... OMIM:300106
Vitamin D-Dependent Rickets, Type 2A
Alopecia universalis OMIM:277440
Beta-Thalassemia Major
Frontal bossing, Malar prominence, Abnormality of the dentition, Genu valgum, Hyperplasia of the ... ORPHA:231214
1P36 Deletion Syndrome
Low-set, posteriorly rotated ears, Frontal bossing, 11 pairs of ribs, Camptodactyly of finger, Py... ORPHA:1606
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Uncombable hair, Woolly hair, Cafe-au-lait spot, Trichorr... ORPHA:84064
Leprosy
Abnormality of the seventh cranial nerve, Abnormal facial skeleton morphology, Abnormal autonomic... ORPHA:548
Von Willebrand Disease, Type 3
Prolonged bleeding time, Epistaxis, Joint hemorrhage, Impaired platelet aggregation, Thrombocytop... OMIM:277480
C Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of the ear cartilage, Joint dislocation, Accessory ... ORPHA:1308
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Contracture of the proximal interphalangeal joint of the 3rd finger, Thin upper lip vermilion, Ro... OMIM:301044
Developmental And Epileptic Encephalopathy 100
Tented upper lip vermilion, Protruding tongue, Micrognathia, Bilateral camptodactyly, Elbow flexi... OMIM:619777
Nijmegen Breakage Syndrome
Anal stenosis, Short neck, Hearing abnormality, Deep philtrum, Non-midline cleft lip, Macrotia, A... ORPHA:647
Coffin-Siris Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Coarse facial features, Thick lower lip verm... ORPHA:1465
Celiac Disease, Susceptibility To, 1
Alopecia OMIM:212750
Yunis-Varon Syndrome
Redundant neck skin, Congenital hip dislocation, Flat occiput, Micrognathia, Short metatarsal, Pr... OMIM:216340
Feingold Syndrome 1
Jejunal atresia, Posteriorly rotated ears, Hearing impairment, Micrognathia, Facial asymmetry, Es... OMIM:164280
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Erosion of oral mucosa, Esophageal ulceration, Anal fissure, Oral mucosal blisters, Carious teeth... ORPHA:79408
Meckel Syndrome, Type 1
Thin upper lip vermilion, Natal tooth, Occipital encephalocele, Intestinal malrotation, Camptodac... OMIM:249000
Trichorhinophalangeal Syndrome, Type Ii
Mandibular prognathia, Thin upper lip vermilion, Chronic gastritis, Short metacarpal, Hearing imp... OMIM:150230
Faundes-Banka Syndrome
Thin upper lip vermilion, Frontal bossing, Micrognathia, Cupped ear, Cleft palate, Plagiocephaly,... OMIM:619376
Alzahrani-Kuwahara Syndrome
Optic disc pallor, Frontal bossing, Posteriorly rotated ears, Micrognathia, Narrow philtrum, Thic... OMIM:619268
Brown-Vialetto-Van Laere Syndrome 1
Tongue atrophy, Facial palsy, Sensorineural hearing impairment, Ankle clonus, Tongue fasciculatio... OMIM:211530
Adrenomyeloneuropathy
Abnormality of skin pigmentation, Lip hyperpigmentation, Frontal balding, Fine hair ORPHA:139399
Nijmegen Breakage Syndrome
Anal stenosis, Sinusitis, Cleft upper lip, Micrognathia, Malar prominence, Deep philtrum, Cleft p... OMIM:251260
Pitt-Hopkins Syndrome
Coarse facial features, Fetal nuchal edema, Short fourth metatarsal, Short fifth metatarsal, Shor... OMIM:610954
Mandibuloacral Dysplasia With Type A Lipodystrophy
Sparse scalp hair, Alopecia, Mottled pigmentation, Onychogryposis OMIM:248370
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Thick lower lip vermilion, Hyperplasia of midface, Wide mouth, Open mouth, Thick upper lip vermil... OMIM:611087
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduct... ORPHA:206436
Houge-Janssens Syndrome 1
Congenital muscular torticollis, Facial hypotonia, Pyloric stenosis OMIM:616355
Tetrasomy 9P
Joint dislocation, Glue ear, Dental crowding, Micrognathia, Short neck, Downturned corners of mou... ORPHA:3310
Trichothiodystrophy
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Concave nail, Numerous pigmented freckl... ORPHA:33364
Microphthalmia, Syndromic 6
Midface retrusion, Posteriorly rotated ears, Uplifted earlobe, Micrognathia, Facial asymmetry, Ma... OMIM:607932
Tick-Borne Encephalitis
Facial palsy, Vertigo, Abnormal cranial nerve morphology, Abnormal glossopharyngeal nerve morphol... ORPHA:297
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of the temporomandibular joint, Facial palsy, Protruding tongue, Macroglossia, Lissen... ORPHA:258
Menke-Hennekam Syndrome 1
Short ear, Thin upper lip vermilion, Everted upper lip vermilion, Prominent inferior crus of anti... OMIM:618332
Biotinidase Deficiency
Alopecia ORPHA:79241
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro... ORPHA:158048
Weaver Syndrome
Deep-set nails, Thin nail, Melanocytic nevus, Fine hair, Sparse hair OMIM:277590
Sympathetic Ophthalmia
Vitiligo, Alopecia, Poliosis ORPHA:79098
Femoral-Facial Syndrome
Short third metatarsal, Thin upper lip vermilion, Short fourth metatarsal, Short humerus, Abnorma... OMIM:134780
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Posteriorly rotated ears, Tarsal synostosis, Congenital sensorineural hearing ... OMIM:157800
Bloom Syndrome
Narrow face, Agenesis of maxillary lateral incisor, Protruding ear, Dolichocephaly, Malar flattening OMIM:210900
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Low-set, posteriorly rotated ears, Vertebral fusion, Congenital hip disloc... ORPHA:373
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Abnormal midface morphology, Submucous cleft hard palate, Cleft palate, Failure of eruption of pe... ORPHA:2250
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue atrophy, Tongue fasciculations OMIM:613435
Mucopolysaccharidosis, Type Vii
Coarse hair, Thick eyebrow, Hirsutism OMIM:253220
Fraser Syndrome 2
Intestinal malrotation, Short neck, Rectal atresia, Atresia of the external auditory canal, Low-s... OMIM:617666
Colchicine Poisoning
Alopecia ORPHA:31824
Myopathy, Centronuclear, X-Linked
Facial palsy, Pyloric stenosis, Flexion contracture, High palate, Diaphragmatic eventration OMIM:310400
Transaldolase Deficiency
Short neck, Deep philtrum, Wide mouth, Thin vermilion border, Short philtrum, Low-set ears, Trian... OMIM:606003
Fraser Syndrome
Encephalocele, Low-set, posteriorly rotated ears, Anal stenosis, Dental crowding, Cleft upper lip... ORPHA:2052
Ectodermal Dysplasia-Skin Fragility Syndrome
Sparse hair, Nail dystrophy, Alopecia universalis, Hypohidrosis ORPHA:158668
Dyskeratosis Congenita, X-Linked
Ridged nail, Split nail, Alopecia, Sparse eyelashes, Reticulated skin pigmentation, Pterygium of ... OMIM:305000
Scalp-Ear-Nipple Syndrome
Sparse axillary hair, Sparse pubic hair, Fine hair, Hypohidrosis, Patchy alopecia, Breast aplasia... OMIM:181270
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Frontal bossing, Optic atrophy, Full cheeks, Wide mouth, Polymicrogyria, Facial asymmetry ORPHA:60040
Achondrogenesis, Type Ia
Turricephaly, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Short neck, Protruding tongue... OMIM:200600
Popliteal Pterygium Syndrome
Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Popliteal pterygium, Intercrura... OMIM:119500
Warburg-Cinotti Syndrome
Dental crowding, Posteriorly rotated ears, Ankle flexion contracture, Elbow flexion contracture, ... OMIM:618175
Rothmund-Thomson Syndrome
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Reticular hyperpigmentation, Small nail, Nail... ORPHA:2909
9Q21.13 Microdeletion Syndrome
Downturned corners of mouth, Gray matter heterotopia, Abnormal tongue morphology, Craniosynostosis ORPHA:531151
Fraser Syndrome 1
Encephalocele, Abnormal small intestine morphology, Aplasia/Hypoplasia of the thumb, Dental crowd... OMIM:219000
Vascular Ehlers-Danlos Syndrome
Joint dislocation, Congenital hip dislocation, High, narrow palate, Abnormality of the gingiva, O... ORPHA:286
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
Lacrimoauriculodentodigital Syndrome
Micrognathia, Xerostomia, Orofacial cleft, Conductive hearing impairment, Microdontia, Abnormal f... ORPHA:2363
Scheie Syndrome
Coarse facial features, Sensorineural hearing impairment, Wide mouth, Thick vermilion border, Eve... ORPHA:93474
Factor V Deficiency
Prolonged bleeding time, Prolonged prothrombin time, Epistaxis OMIM:227400
Pontocerebellar Hypoplasia, Type 1B
Tongue atrophy, Hip dislocation, Tongue fasciculations OMIM:614678
Lipoid Proteinosis
Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, High pala... ORPHA:530
Neu-Laxova Syndrome 1
Hydranencephaly, Spina bifida, Cleft upper lip, Micrognathia, Swollen lip, Short neck, Thick lowe... OMIM:256520
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Onycholysis, Nail dystrophy OMIM:614748
Hydrolethalus Syndrome 1
Median cleft lip, Abnormal pinna morphology, Abnormal cortical gyration, Micrognathia, Anencephal... OMIM:236680
Nephrotic Syndrome, Type 1
Pyloric stenosis, Gastroesophageal reflux OMIM:256300
Systemic Sclerosis
Alopecia, Nail bed telangiectasia, Spotty hypopigmentation, Hypohidrosis, Irregular hyperpigmenta... ORPHA:90291
Proboscis Lateralis
Aplasia/Hypoplasia of the maxilla, Optic nerve hypoplasia, Proboscis, Abnormal paranasal sinus mo... ORPHA:141099
Nicolaides-Baraitser Syndrome
Absent eyebrow, Dry hair, Sparse scalp hair, Low anterior hairline, Low posterior hairline, Cafe-... OMIM:601358
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Narrow face, Tented upper lip vermilion, Wide mouth, Abnormal facial shape, Open mouth ORPHA:500533
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Leigh Syndrome
Alopecia, Frontal hirsutism, Hypertrichosis ORPHA:506
Otosclerosis 10
Otosclerosis OMIM:615589
Scleromyxedema
Abnormality of the neck, Narrow mouth ORPHA:167635
Noonan Syndrome 1
Micrognathia, Short neck, High, narrow palate, Sensorineural hearing impairment, Dental malocclus... OMIM:163950
Donohue Syndrome
Thick lower lip vermilion, Gingival overgrowth, Wide mouth, Elfin facies, Low-set ears, Small fac... OMIM:246200
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous cleft hard palate, Posteriorly ... OMIM:192445
Lymphedema-Distichiasis Syndrome
Micrognathia, Cleft upper lip, Cleft palate, Webbed neck, Cystic hygroma OMIM:153400
Holoprosencephaly 2
Aplasia of the premaxilla, Proboscis, Submucous cleft hard palate, Absent nasal septal cartilage,... OMIM:157170
Phakomatosis Pigmentokeratotica
Hyperhidrosis, Patchy alopecia, Melanocytic nevus ORPHA:2874
Juvenile Dermatomyositis
Alopecia ORPHA:93672
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Sensorineural hearing impairmen... OMIM:614207
Acromelic Frontonasal Dysplasia
Encephalocele, Median cleft lip, Meningocele, Brachycephaly, Patellar hypoplasia, Wide mouth, Apl... ORPHA:1827
Craniofacial Dyssynostosis With Short Stature
Pyloric stenosis OMIM:218350
Tetraamelia Syndrome 1
Micrognathia, Cleft upper lip, Cleft palate, Low-set ears, Tetraamelia, Anal atresia OMIM:273395
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Intestinal malrotation, Brachycephaly, Genu valgum, Wide mouth, Posterior plagioceph... OMIM:617798
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Lymphadenopathy, T lymphocytopenia,... ORPHA:83471
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Optic atrophy, Macrotia, Abnormality of peripheral nerve con... ORPHA:90321
Behcet Syndrome
Patchy alopecia OMIM:109650
Spastic Paraplegia 51, Autosomal Recessive
Narrow face, Coarse facial features, Wide mouth, Prominent antihelix, Short philtrum OMIM:613744
Intellectual Developmental Disorder, Autosomal Dominant 61
Wide mouth, Thin upper lip vermilion, Smooth philtrum OMIM:618009
Spinocerebellar Ataxia Type 36
Vertigo, Tongue atrophy, Tongue fasciculations, Hearing impairment ORPHA:276198
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... OMIM:614074
Spinocerebellar Ataxia 36
Tongue atrophy, Tongue fasciculations, Hearing impairment OMIM:614153
Stüve-Wiedemann Syndrome
Camptodactyly of finger, Micromelia, Abnormality of the dentition, Trismus, Elbow flexion contrac... ORPHA:3206
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2
Downturned corners of mouth, Wide mouth, Short philtrum OMIM:619759
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse hair, Patchy alopecia, Sparse eyelashes, Sparse eyebrow OMIM:302960
Focal Dermal Hypoplasia
Abnormality of skin pigmentation, Alopecia, Abnormality of the nail ORPHA:2092
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... ORPHA:171929
Degcags Syndrome
Micrognathia, High palate, Abnormal facial shape, Hiatus hernia, Short thumb, Thick vermilion bor... OMIM:619488
Schneckenbecken Dysplasia
Hypoplastic scapulae, Micromelia, Short neck, Cleft palate, Fibular hypoplasia, Hypoplastic verte... ORPHA:3144
Autoimmune Polyendocrinopathy Type 4
Alopecia, Vitiligo ORPHA:227990
Lysinuric Protein Intolerance
Sparse hair, Fine hair OMIM:222700
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Postauricular pit, Short palm, Posterior helix pit, Preauricular pit, Exag... OMIM:312870
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... ORPHA:906
Xeroderma Pigmentosum
Alopecia, Hypermelanotic macule, Hypopigmented skin patches, Melanocytic nevus, Freckling ORPHA:910
Rothmund-Thomson Syndrome Type 1
Hyperpigmentation of the skin, Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Spar... ORPHA:221008
Autoimmune Polyendocrinopathy Type 3
Alopecia, Vitiligo ORPHA:227982
Myoclonic-Astatic Epilepsy
Thin upper lip vermilion, Thick lower lip vermilion, Wide mouth, Long philtrum, Abnormal facial s... ORPHA:1942
Phosphoribosylpyrophosphate Synthetase Superactivity
Peripheral axonal neuropathy, Sensorineural hearing impairment, Gout, Wide mouth, High palate, Lo... OMIM:300661
Menkes Disease
Sparse hair, Woolly hair, Hypopigmentation of hair ORPHA:565
Neuroocular Syndrome
Genu recurvatum, Unilateral deafness, Short uvula, Submucous cleft hard palate, Cupped ear, Anter... OMIM:619539
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Alopecia, Small nail OMIM:308050
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Alopecia, Nail dystrophy ORPHA:37042
Encephalocraniocutaneous Lipomatosis
Abnormal eyelash morphology, Alopecia ORPHA:2396
Classical-Like Ehlers-Danlos Syndrome Type 2
Alopecia ORPHA:536532
Melkersson-Rosenthal Syndrome
Facial palsy, Cheilitis, Furrowed tongue, Macroglossia, Abnormal autonomic nervous system physiology ORPHA:2483
Charcot-Marie-Tooth Disease Type 4B2
Tongue atrophy, Decreased distal sensory nerve action potential, Myelin outfoldings, Sensorineura... ORPHA:99956
Mucolipidosis Type Ii
Dry hair, White hair, Fine hair ORPHA:576
Storage Pool Platelet Disease
Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia OMIM:185050
Insulin-Resistance Syndrome Type B
Alopecia, Hirsutism ORPHA:2298
Aneurysm-Osteoarthritis Syndrome
Long face, Osteoarthritis of the small joints of the hand, Protrusio acetabuli, Camptodactyly of ... ORPHA:284984
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Thin upper lip vermilion, Tracheoesophageal fistula, Microtia, High palate, Low-set ears, Stomati... OMIM:277380
Prothrombin Deficiency, Congenital
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Join... OMIM:613679
Localized Scleroderma
Abnormal skin adnexa morphology, Hypopigmented skin patches, Patchy alopecia, Hyperpigmentation o... ORPHA:90289
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Long face, Thin upper lip vermilion, Frontal bossing, Dental crowding, High, narrow palate, Wide ... ORPHA:466791
Atypical Werner Syndrome
Abnormal hair quantity, Abnormality of retinal pigmentation, Alopecia, Abnormal hair morphology, ... ORPHA:79474
Rothmund-Thomson Syndrome Type 2
Hyperpigmentation of the skin, Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Spar... ORPHA:221016
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Dec... ORPHA:909
Microphthalmia, Syndromic 1
Dental crowding, Aganglionic megacolon, Abnormal pinna morphology, Cleft upper lip, High, narrow ... OMIM:309800
Cockayne Syndrome B
Anhidrosis, Dry hair, Abnormal hair morphology, Abnormality of skin pigmentation, Pigmentary reti... OMIM:133540
Autosomal Recessive Malignant Osteopetrosis
Abnormality of hair texture ORPHA:667
Intellectual Developmental Disorder, Autosomal Dominant 47
Wide mouth, Increased nuchal translucency, Widely-spaced incisors OMIM:617635
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Malabsorption, Triangular face, Narrow mouth OMIM:616539
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Frontal bossing, Coarse facial features, Posteriorly rotated ears, Deep philtrum, Wide mouth, Low... OMIM:617260
X-Linked Intellectual Disability, Nascimento Type
Preauricular pit, Lower extremity joint dislocation, Deep philtrum, Low posterior hairline, Downt... ORPHA:163956
Cranioectodermal Dysplasia 1
Slow-growing hair, Thin nail, Short nail, Fine hair, Sparse hair OMIM:218330
Hermansky-Pudlak Syndrome 6
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Abnormal platelet granules, E... OMIM:614075
Ataxia-Telangiectasia
Acute lymphoblastic leukemia, T lymphocytopenia, Hypoplasia of the thymus, Decreased proportion o... OMIM:208900
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Absent eyebrow, Alopecia, Thin fingernail, Abnormal eyelash morphology, Abnormal hair morphology,... ORPHA:2273
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Generalized hypopigmentation, Alopecia OMIM:619321
Chronic Granulomatous Disease
Pyloric stenosis, Tracheoesophageal fistula, Malabsorption ORPHA:379
Coach Syndrome 1
Encephalocele, Occipital encephalocele, Optic disc pallor, Round face, Esophageal varix, Wide mouth OMIM:216360
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue atrophy, Tongue fasciculations OMIM:620285
Coffin-Siris Syndrome 4
Thin upper lip vermilion, Everted upper lip vermilion, Coarse facial features, Thick lower lip ve... OMIM:614609
Short Stature And Microcephaly With Genital Anomalies
Narrow face, Genu valgum, Narrow mouth OMIM:618702
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Sensorineural hearing impairment, Elbow flexion contracture, Knee flexion contracture, Furrowed t... OMIM:148210
Systemic Lupus Erythematosus
Alopecia ORPHA:536
Myopathy, Myofibrillar, 7
Tongue atrophy, Elbow flexion contracture, Facial palsy OMIM:617114
Cockayne Syndrome A
Anhidrosis, Dry hair, Retinal pigment epithelial mottling, Abnormality of skin pigmentation, Pigm... OMIM:216400
Congenital Disorder Of Glycosylation, Type Iiw
Narrow face, Micrognathia, Supernumerary tooth, Low-set ears, Recurrent otitis media, Ankylogloss... OMIM:619525
Charcot-Marie-Tooth Disease Type 4C
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... ORPHA:99949
Adams-Oliver Syndrome 1
Alopecia, Small nail, Supernumerary nipple OMIM:100300
Occipital Horn Syndrome
Coarse hair, Pili torti OMIM:304150
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of peripheral somatosensory evoked potentials, Tongue atrophy, Decreased distal senso... ORPHA:466768
Agammaglobulinemia, X-Linked
T lymphocytopenia, Lymph node hypoplasia, B lymphocytopenia, Neutropenia, Anemia OMIM:300755
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia OMIM:607944
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Subungual hyperkeratosis, Absent eyelashes, Hypohidr... OMIM:308205
Woodhouse-Sakati Syndrome
Alopecia, Aplasia/Hypoplasia of the eyebrow ORPHA:3464
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Pyloric stenosis, Flexion contracture, Ileus, Skeleta... OMIM:613327
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Short lingual frenulum, Craniosynostosis, Aplasia/Hypoplasia involving bones of the skull, Low po... ORPHA:1521
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Triangular face, Low-set ears, Narrow mouth, Sunken cheeks, Tinnitus OMIM:606721
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Joint hemorrhage, Aortic valve s... OMIM:193400
Geleophysic Dysplasia 1
Short palm, Round face, Camptodactyly of finger, Wide mouth, Short foot, Long philtrum, Thickened... OMIM:231050
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... ORPHA:391487
Griscelli Syndrome
Pyloric stenosis ORPHA:381
Pallister-Killian Syndrome
Tented upper lip vermilion, Congenital hip dislocation, Micrognathia, Short neck, Anteriorly plac... OMIM:601803
Aprosencephaly And Cerebellar Dysgenesis
Bifid uvula, Craniosynostosis, Micrognathia OMIM:601374
Viss Syndrome
Chronic gastritis, Micrognathia, High, narrow palate, Brachycephaly, High palate, Broad uvula, Bi... OMIM:619472
Severe Generalized Junctional Epidermolysis Bullosa
Alopecia, Paronychia, Nail dystrophy, Anonychia, Abnormality of the nail ORPHA:79404
Relapsing Polychondritis
Alopecia ORPHA:728
Norrie Disease
Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal cochlea morphology, Abn... ORPHA:649
Agel Amyloidosis
Tongue atrophy, Facial palsy, Xerostomia, Orthostatic hypotension due to autonomic dysfunction, H... ORPHA:85448
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Square face, Posteriorly rotated ears, Sensorineural hearing impairment... ORPHA:466943
Cantú Syndrome
Coarse facial features, Short hallux, Short neck, Low posterior hairline, Wide mouth, Thick vermi... ORPHA:1517
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palat... OMIM:613091
Koolen-De Vries Syndrome Due To A Point Mutation
Alopecia, Cafe-au-lait spot, Fair hair, Hypopigmentation of the skin, Vitiligo ORPHA:363965
17Q21.31 Microdeletion Syndrome
Alopecia, Cafe-au-lait spot, Fair hair, Hypopigmentation of the skin, Vitiligo ORPHA:363958
Psoriasis 14, Pustular
Oligoarthritis, Polyarticular arthritis, Geographic tongue, Furrowed tongue OMIM:614204
Focal Dermal Hypoplasia
Ridged nail, Linear hyperpigmentation, Brittle hair, Supernumerary nipple, Reticular hyperpigment... OMIM:305600
Cockayne Syndrome Type 3
Premature graying of hair, Dry hair ORPHA:90324
Esophageal Atresia
Barrett esophagus, Intestinal malrotation, Pyloric stenosis, Gastrointestinal dysmotility, Anorec... ORPHA:1199
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Juvenile colonic polyposis, Rect... ORPHA:2929
Pallister-Hall Syndrome
Microretrognathia, Natal tooth, Low-set, posteriorly rotated ears, Auricular tag, Accessory oral ... ORPHA:672
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Low-set ears, Stomatitis, Abnormal facial shape, Glossitis, Peripheral demyelinati... ORPHA:79282
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Redundant neck skin,... ORPHA:2729
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Sparse hair, Alopecia, Loss of eyelashes, Thin eyebrow ORPHA:2636
Zellweger Syndrome
Pyloric stenosis, High palate, Malabsorption ORPHA:912
Vici Syndrome
Leukopenia, T lymphocytopenia, Neutropenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:242840
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Pyloric stenosis, Submucous cleft hard palate, High palate, Cont... ORPHA:457279
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Short palm, Frontal bossing, Micromelia, Cleft upper lip, Micrognathia, Esophageal atresia, Short... ORPHA:93271
Hartnup Disease
Glossitis, Gingivitis, Malabsorption ORPHA:2116
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Brittle hair OMIM:124000
Occipital Horn Syndrome
Coarse hair, Thick hair ORPHA:198
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Pyloric stenosis, Gastrointestinal dysmotility, Macroglossia, Gastro... ORPHA:363705
Methylmalonic Acidemia With Homocystinuria Type Cblf
Stomatitis, Abnormal facial shape, Glossitis, Cleft palate ORPHA:79284
Sotos Syndrome
Long face, Hip contracture, Narrow face, Coarse facial features, Aganglionic megacolon, Ankle fle... ORPHA:821
Kikuchi-Fujimoto Disease
Alopecia ORPHA:50918
Coffin-Lowry Syndrome
Hyperconvex fingernails, Coarse hair, Thick eyebrow, Highly arched eyebrow OMIM:303600
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Prolonged bleeding time, Autoimmune h... OMIM:301000
Cockayne Syndrome
Abnormality of retinal pigmentation, Dry hair, Anhidrosis, Fine hair, Pigmentary retinopathy ORPHA:191
Chronic Graft Versus Host Disease
Abnormality of skin pigmentation, Alopecia, Onycholysis, Nail dystrophy ORPHA:99921
2Q37 Microdeletion Syndrome
Pyloric stenosis, Congenital diaphragmatic hernia ORPHA:1001
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Protruding tongue OMIM:614325
Ulnar-Mammary Syndrome
Camptodactyly of finger, Pyloric stenosis, Aplasia of the pectoralis major muscle, Ectopic anus, ... ORPHA:3138
Aspartylglucosaminuria
Coarse facial features, Hypoplastic frontal sinuses, Thick lower lip vermilion, Brachycephaly, Wi... OMIM:208400
Bloom Syndrome
Sparse eyelashes, Paronychia, Patchy alopecia, Cafe-au-lait spot, Hypopigmentation of the skin ORPHA:125
Turner Syndrome Due To Structural X Chromosome Anomalies
Alopecia, Abnormal fingernail morphology, Numerous congenital melanocytic nevi, Hypoplastic toena... ORPHA:99413
Mosaic Monosomy X
Alopecia, Abnormal fingernail morphology, Numerous congenital melanocytic nevi, Hypoplastic toena... ORPHA:99228
Monosomy X
Alopecia, Abnormal fingernail morphology, Numerous congenital melanocytic nevi, Hypoplastic toena... ORPHA:99226
Turner Syndrome
Alopecia, Abnormal fingernail morphology, Numerous congenital melanocytic nevi, Hypoplastic toena... ORPHA:881
Steinert Myotonic Dystrophy
Early balding, Alopecia ORPHA:273
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair OMIM:210710
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, T l... OMIM:619381
Ogden Syndrome
Sparse eyebrow, Long eyelashes, Fine hair OMIM:300855
Diets-Jongmans Syndrome
Thin upper lip vermilion, Hearing impairment, Wide mouth, Long ear, Umbilical hernia, Duodenal at... OMIM:618846
Kleefstra Syndrome
Macroglossia, Gastroesophageal reflux, Pyloric stenosis ORPHA:261494
Frontometaphyseal Dysplasia 2
Hip contracture, Decreased muscle mass, Elbow contracture, Pyloric stenosis, Cleft palate, Ulcera... OMIM:617137
Hereditary Folate Malabsorption
Glossitis, Cheilitis ORPHA:90045
Arterial Tortuosity Syndrome
Hiatus hernia, Pyloric stenosis, Gastroesophageal reflux, Esophagitis, Median cleft lip and palate ORPHA:3342
Generalized Pustular Psoriasis
Arthritis, Geographic tongue, Cheilitis ORPHA:247353
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Morgagni diaphragmatic hernia, Pyloric stenosis, Rectal prol... OMIM:613177
Sarcoidosis
Alopecia, Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:797
Multiple Endocrine Neoplasia Type 2
Multiple mucosal neuromas, Paraganglioma of head and neck, Aganglionic megacolon, Abnormal tongue... ORPHA:653
Microsporidiosis
Sinusitis, Glossitis ORPHA:2552
Knobloch Syndrome 2
Pyloric stenosis OMIM:618458
Osteogenesis Imperfecta, Type X
Pyloric stenosis OMIM:613848
Imerslund-Gräsbeck Syndrome
Glossitis, Angular cheilitis ORPHA:35858
African Trypanosomiasis
Alopecia ORPHA:3385
Myoectodermal Gonadal Dysgenesis Syndrome
Pyloric stenosis, Diastasis recti, Anal atresia OMIM:618419
Arima Syndrome
Optic atrophy, Esophageal varix, Wide mouth, Gray matter heterotopia, Occipital meningocele OMIM:243910
Cowden Syndrome
Furrowed tongue, Hamartomatous polyposis, Macroglossia, Colorectal polyposis, High palate, Hearin... ORPHA:201
Proteus Syndrome
Enlarged polycystic ovaries, Renal cyst, Low-set ears, Macrotia, Narrow internal auditory canal ORPHA:744
Pmm2-Cdg
Mandibular prognathia, Thin upper lip vermilion, Abnormal pinna morphology, Impaired neutrophil c... ORPHA:79318
Liver Disease, Severe Congenital
Dry hair, Nail dystrophy OMIM:619991
Knobloch Syndrome
Pyloric stenosis ORPHA:1571
Carney Complex
Neoplasm of the stomach, Esophageal neoplasm, Schwannoma, Neoplasm of the rectum, Moon facies, Ab... ORPHA:1359
Dyrk1A-Related Intellectual Disability Syndrome
Pyloric stenosis, Multiple joint contractures, Gastroesophageal reflux, Duodenal atresia ORPHA:464306
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Sensorineural hearing impairment, Pseudopapilledema OMIM:146255
Townes-Brocks Syndrome
Rectoperineal fistula, Facial asymmetry, External ear malformation, Absent toe, Wide mouth, Anter... ORPHA:857
Jacobsen Syndrome
Intestinal malrotation, Pyloric stenosis, Abnormality of the anus, Ectopic anus, Duodenal atresia ORPHA:2308
Jacobsen Syndrome
Pyloric stenosis, Flexion contracture OMIM:147791
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Pyloric stenosis ORPHA:93111
Pachyonychia Congenita 3
Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue OMIM:615726
Autosomal Recessive Cutis Laxa Type 1
Pyloric stenosis, Small bowel diverticula ORPHA:90349
Plague
Chapped lip, Abnormality of the elbow, Enterocolitis, Arthritis, Inflammation of the large intest... ORPHA:707
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Intestinal malrotation, Pyloric stenosis, Gastrointestinal dysmotility, Cl... OMIM:270400
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Pyloric stenosis, Gastroesophageal reflux, Cleft soft palate, Dysphagia ORPHA:268261
Kawasaki Disease
Arthritis, Glossitis, Cheilitis ORPHA:2331
Glucagonoma
Stomatitis, Intestinal obstruction, Glossitis, Steatorrhea ORPHA:97280
Ulnar-Mammary Syndrome
Pyloric stenosis, Anal stenosis, Elbow flexion contracture, Anal atresia OMIM:181450
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Progressive sensorineural hearing impairment, Cleft palate ORPHA:2237
Knobloch Syndrome 1
Pyloric stenosis OMIM:267750
Cornelia De Lange Syndrome
Intestinal malrotation, Congenital diaphragmatic hernia, Pyloric stenosis, Cleft palate, High pal... ORPHA:199
Mowat-Wilson Syndrome
Aganglionic megacolon, Pyloric stenosis, Submucous cleft hard palate, Generalized muscle hypertro... OMIM:235730
Alström Syndrome
Frontal balding, Hirsutism, Fine hair ORPHA:64
Mowat-Wilson Syndrome
Aganglionic megacolon, Cleft hard palate, Pyloric stenosis, Gastrointestinal dysmotility, Flexion... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aganglionic megacolon, Cleft hard palate, Pyloric stenosis, Flexion contracture, Cleft palate, Su... ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aganglionic megacolon, Cleft hard palate, Pyloric stenosis, Flexion contracture, Cleft palate, Su... ORPHA:261552

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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