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Gene: Foxe1 MGI:1353500

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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:
forkhead box E1
Synonyms:
Titf2,  thyroid transcription factor 2

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 Foxe1 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 Foxe1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thyroid Cancer, Nonmedullary, 4
Goiter, Papillary thyroid carcinoma, Ovarian neoplasm OMIM:616534
Bamforth-Lazarus Syndrome
Abnormal hair quantity, Thyroid agenesis, Cleft palate, Congenital hypothyroidism ORPHA:1226
Familial Papillary Or Follicular Thyroid Carcinoma
Nodular goiter, Papillary thyroid carcinoma, Follicular thyroid carcinoma, Goiter ORPHA:319487
Bamforth-Lazarus Syndrome
Thyroid agenesis, Cleft palate, Congenital hypothyroidism OMIM:241850
Athyreosis
Thyroid agenesis, Macroglossia, Hypothyroidism ORPHA:95713

The table below shows human diseases predicted to be associated to Foxe1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thyroid Carcinoma, Familial Medullary
Medullary thyroid carcinoma OMIM:155240
Thyroid Cancer, Nonmedullary, 2
Non-medullary thyroid carcinoma, Papillary thyroid carcinoma, Follicular thyroid carcinoma OMIM:188470
Thyroid Cancer, Nonmedullary, 3
Non-medullary thyroid carcinoma OMIM:606240
Thyroid Cancer, Nonmedullary, 5
Non-medullary thyroid carcinoma OMIM:616535
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Thyroid Cancer, Nonmedullary, 1
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter OMIM:188550
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Thyroid Dyshormonogenesis 2A
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... OMIM:274500
Hypotrichosis 1
Sparse eyelashes, Sparse axillary hair, Abnormality of the dentition, Sparse pubic hair, Sparse e... OMIM:605389
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Witkop Syndrome
Ridged nail, Concave nail, Microdontia of primary teeth, Fine hair, Agenesis of permanent teeth, ... OMIM:189500
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal dental morphology, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic... ORPHA:2722
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair, Hypodontia OMIM:246500
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... OMIM:275200
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Precocious puberty, Fine hair, Woolly scalp hair, Co... ORPHA:79414
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
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
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... OMIM:188570
Cardiofaciocutaneous Syndrome 2
Curly hair, Absent eyebrow, Fine hair, High palate, Sparse hair OMIM:615278
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Abnormal fingernail morphology, Conical to... ORPHA:2228
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Hypotrichosis 10
Sparse eyebrow, Sparse eyelashes, Sparse body hair OMIM:614238
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Uncombable Hair Syndrome 2
Uncombable hair, Pili canaliculi OMIM:617251
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Naxos Disease
Sparse scalp hair, Curly hair, Abnormality of hair texture, Cleft upper lip, Woolly hair ORPHA:34217
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Sparse hair, Reduced terminal:vellus ratio, Pili torti OMIM:601553
Parc Syndrome
Absent eyelashes, Absent eyebrow, Alopecia, Cleft palate OMIM:600331
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Abnormality of the dentition, Abnormal eyelash morphology, Gingivitis, Periodo... ORPHA:1008
Thyroid Cancer, Nonmedullary, 4
Goiter, Papillary thyroid carcinoma, Ovarian neoplasm OMIM:616534
Ectodermal Dysplasia 9, Hair/Nail Type
Concave nail, Absent eyelashes, Nail dystrophy, Atrichia, Nail dysplasia, Sparse hair, Absent hair OMIM:614931
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Conical primary inci... OMIM:602400
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... ORPHA:2891
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormality of the denti... OMIM:604379
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Axin2-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Colorectal polyposis, Colon cancer, Sparse... ORPHA:401911
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali... ORPHA:2889
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Syndromic X-Linked Intellectual Disability 7
Abnormal dental morphology, Cryptorchidism, Hypogonadism, Tooth malposition, Sparse body hair ORPHA:85274
Tooth Agenesis, Selective, 8
Microdontia, Sparse hair, Selective tooth agenesis, Sparse eyebrow OMIM:617073
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Abnormality of the philtrum, Sparse eyelashes, Cleft upper lip, Sparse eyebrow, Abn... OMIM:225060
Rothmund-Thomson Syndrome, Type 1
Absent eyebrow, Thin nail, Conical tooth, Absent eyelashes, Nail dystrophy, Sparse hair, Male hyp... OMIM:618625
Blepharochalasis And Double Lip
Goiter OMIM:109900
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Hypogonadism, Pili torti, Abnormal testis morphology, Sparse b... ORPHA:202
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Cryptorchidism, Fine hair, Sparse hair, Hypodontia, Microdontia ORPHA:1174
X-Linked Hypohidrotic Ectodermal Dysplasia
Delayed eruption of teeth, Everted upper lip vermilion, Everted lower lip vermilion, Sparse hair,... ORPHA:181
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Chand Syndrome
Curly hair, Commissural lip pit, Nail dysplasia OMIM:214350
Hypothyroidism, Congenital, Nongoitrous, 9
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... OMIM:301035
Braddock-Carey Syndrome 1
Curly hair, Pierre-Robin sequence, Cleft palate, Anteriorly placed anus, Everted lower lip vermil... OMIM:619980
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Curly hair, Thick eyebrow, Curly eyelashes, Multiple rows of eyelashes, Narrow philtrum, Thick lo... ORPHA:163654
Ectodermal Dysplasia, Trichoodontoonychial Type
Abnormal dental morphology, Abnormal eyelash morphology, Hypodontia, Sparse hair, Abnormal toenai... ORPHA:1818
Trichodental Dysplasia
Brittle hair, Odontodysplasia, Slow-growing hair, Conical tooth, Fine hair, Hypodontia, Sparse hair OMIM:601453
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair, Everted lower lip vermilion OMIM:278200
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... ORPHA:1808
Graham Little-Piccardi-Lassueur Syndrome
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair ORPHA:505
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormality of the dentition, Abnor... ORPHA:573
Trichothiodystrophy 9, Nonphotosensitive
Sparse eyebrow, High, narrow palate, Dental malocclusion, Nail dystrophy, Sparse hair, Tiger tail... OMIM:619692
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Decreased response to growth hormone stimulation test, Abnormality of the dentition, Cr... ORPHA:3363
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Hypodontia, Sparse h... OMIM:129490
Hypotrichosis 12
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormality of the dentitio... OMIM:615885
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Thin upper lip vermilion, Widow's peak, Long philtrum, Sparse hair, Thick eyebrow OMIM:606242
Bamforth-Lazarus Syndrome
Abnormal hair quantity, Thyroid agenesis, Cleft palate, Congenital hypothyroidism ORPHA:1226
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail OMIM:617294
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Hawkinsinuria
Sparse hair, Hypothyroidism, Fine hair ORPHA:2118
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Thin upper lip vermilion, Curly hair, Tented upper lip vermilion, Sparse eyebrow, Synophrys, Thic... OMIM:620075
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal dental morphology, Abnormal fingernail morphology, Premature loss of primary t... ORPHA:248
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter OMIM:180295
Oliver-Mcfarlane Syndrome
Alopecia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, L... OMIM:275400
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fine hair, Fragile nails, Abnormality of the dentition ORPHA:500166
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormality of the dentition, Abnorm... OMIM:614929
Intellectual Developmental Disorder, Autosomal Dominant 34
Curly hair, Synophrys, Coarse hair, Widely spaced teeth, Smooth philtrum OMIM:616351
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Sparse facial hair, Absent facial hair, High, narrow palate, Low ... ORPHA:2183
Aredyld
Generalized hypotrichosis OMIM:207780
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Curly hair, Sparse eyelashes, Decreased response to growth hormone stimulation te... OMIM:615280
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Sparse eyebrow, Hypothyroidism, Fine hair, Dystrophic fingernails, D... ORPHA:1882
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Cleft lip, Cleft palate, Nail dystrophy... ORPHA:2890
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Thin vermilion border, Hypogonadism, Sparse body hair, Decreased testicular size ORPHA:261483
Moynahan Syndrome
Sparse hair, Alopecia, Hypogonadism ORPHA:2574
Focal Facial Dermal Dysplasia 3, Setleis Type
Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis, Thick upper lip vermili... OMIM:227260
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair OMIM:234030
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Low anterior hairline, Downturned corners of mouth, Sparse hair, Distichiasis, ... ORPHA:79133
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
Leopard Syndrome 2
Curly hair, Thick lower lip vermilion OMIM:611554
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Abnormal dental morphology, Everted lower lip vermilion, Fingernail dysplasia, Sparse h... ORPHA:2251
Noonan Syndrome 5
Curly hair, Sparse eyebrow, Cryptorchidism, Fine hair, Wide mouth, Thick vermilion border, Small ... OMIM:611553
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair OMIM:610476
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormal dental morphology, Abnormal fingernail morphology, Premature loss of primary teeth, Abno... ORPHA:1810
Hypothyroidism, Congenital, Nongoitrous, 5
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:225250
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Conical tooth, Hypoplastic toe... OMIM:613573
Björnstad Syndrome
Alopecia, Brittle hair, Hypogonadism ORPHA:123
Noonan Syndrome 6
Curly hair, Long eyebrows, Cryptorchidism, Low posterior hairline, Sparse hair OMIM:613224
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
High, narrow palate, Cryptorchidism, Wide mouth, Downturned corners of mouth, Sparse hair OMIM:273390
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair OMIM:616099
Smith-Kingsmore Syndrome
Thin upper lip vermilion, Curly hair, Cryptorchidism, Wide mouth, Long philtrum, Open mouth, Smoo... OMIM:616638
Cardiofaciocutaneous Syndrome 3
Wide mouth, Curly hair OMIM:615279
Copper Deficiency, Familial Benign
Curly hair, Early balding OMIM:121270
Choroidal Atrophy-Alopecia Syndrome
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... ORPHA:1433
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti OMIM:607903
Ritscher-Schinzel Syndrome 4
Curly hair, Cryptorchidism, Narrow palate, Wide mouth, Thick vermilion border, High palate, Short... OMIM:619435
Schopf-Schulz-Passarge Syndrome
Ridged nail, Narrow nail, Thin nail, Poroma, Onycholysis, Nail dystrophy, Hypodontia, Small nail,... OMIM:224750
Schöpf-Schulz-Passarge Syndrome
Alopecia, Premature loss of primary teeth, Ovarian neoplasm, Hypodontia, Sparse hair, Aplasia/Hyp... ORPHA:50944
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... ORPHA:90368
Eem Syndrome
Sparse scalp hair, Absent eyebrow, Abnormal dental morphology, Selective tooth agenesis, Carious ... ORPHA:1897
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Lactose intolerance, Curly hair, Cryptorchidism, Wide mouth, Long philtrum, Open mouth, Intestina... ORPHA:457485
Noonan Syndrome 9
Sparse eyebrow, Curly hair, Cryptorchidism OMIM:616559
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... OMIM:275000
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth, Sparse hair ORPHA:2266
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Thin upper lip vermilion, Curly hair, Thick eyebrow, Short lingual frenulum, Highly arched eyebro... OMIM:617360
Noonan Syndrome 14
Curly hair, Sparse eyebrow, High, narrow palate, Cryptorchidism, Low posterior hairline, Wide mou... OMIM:619745
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Bjornstad Syndrome
Alopecia, Brittle hair, Dry hair, Coarse hair, Hypogonadism, Hair shafts flattened at irregular i... OMIM:262000
2Q32Q33 Microdeletion Syndrome
Dental crowding, Cleft palate, Fine hair, Oligodontia, Thin vermilion border, High palate, Narrow... ORPHA:251019
Adducted Thumbs Syndrome
High, narrow palate, Velopharyngeal insufficiency, Cleft palate, High palate, Hypertrichosis OMIM:201550
Onychotrichodysplasia And Neutropenia
Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo... OMIM:258360
Tricho-Retino-Dento-Digital Syndrome
Abnormality of the dentition, Supernumerary tooth, Oligodontia, Sparse hair, Uncombable hair ORPHA:1264
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Curly hair, Wide mouth, Thick vermilion border, High palate, Short philtrum OMIM:300986
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Abnormality of the... OMIM:129500
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... ORPHA:113
Carvajal Syndrome
Woolly hair ORPHA:65282
Ectodermal Dysplasia 13, Hair/Tooth Type
Brittle hair, Sparse eyelashes, Low anterior hairline, Oligodontia, Thick vermilion border, Thin ... OMIM:617392
Intermediate Generalized Junctional Epidermolysis Bullosa
Oral mucosal blisters, Scarring alopecia of scalp, Nail dystrophy, Enamel hypoplasia, Anonychia, ... ORPHA:79402
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair OMIM:256850
Trichohepatoneurodevelopmental Syndrome
Curly hair, Dental crowding, Cholelithiasis, Woolly hair, Synophrys, Downturned corners of mouth,... OMIM:618268
Lessel-Kubisch Syndrome
Sparse pubic hair, Premature graying of hair, Hypogonadism, Narrow mouth OMIM:618681
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased testicular size, Cryptorchidism, Increased circulating gonadotropin level, Thin vermili... OMIM:300869
Nicolaides-Baraitser Syndrome
Alopecia, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, High, narrow palate, Cry... ORPHA:3051
Rapp-Hodgkin Syndrome
Conical tooth, Sparse hair, Microdontia, Bifid uvula, Cleft upper lip, Sparse eyebrow, Small nail... OMIM:129400
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... ORPHA:1809
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Chops Syndrome
Curly hair, Thick hair, High, narrow palate, Synophrys, Cryptorchidism, Downturned corners of mou... OMIM:616368
Familial Papillary Or Follicular Thyroid Carcinoma
Nodular goiter, Papillary thyroid carcinoma, Follicular thyroid carcinoma, Goiter ORPHA:319487
Leopard Syndrome 3
Curly hair, Low posterior hairline OMIM:613707
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Angular cheilitis, Sparse axillary hair, Sparse eyebrow, Leu... OMIM:613102
Dermoodontodysplasia
Sparse scalp hair, Tooth agenesis, Fingernail dysplasia, Trichodysplasia, Microdontia, Toenail dy... ORPHA:1660
Gand Syndrome
Wide mouth, Thin upper lip vermilion, Short philtrum, Sparse hair OMIM:615074
Noonan Syndrome 7
Curly hair, Thick vermilion border, Abnormal esophagus morphology, Low posterior hairline OMIM:613706
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... OMIM:613239
Oculodentodigital Dysplasia
Curly hair, Median cleft lip, Brittle hair, Abnormal dental enamel morphology, Premature loss of ... ORPHA:2710
Noonan Syndrome 4
Curly hair, Sparse eyebrow, Cryptorchidism, Dental malocclusion, Wide mouth, Thick vermilion bord... OMIM:610733
Noonan Syndrome 8
Curly hair, Cryptorchidism OMIM:615355
Pili Torti, Early-Onset
Dry hair, Brittle hair, Coarse hair, Pili torti, Hair shafts flattened at irregular intervals and... OMIM:261900
Filippi Syndrome
Cryptorchidism, Hypertrichosis, Thin vermilion border, Short philtrum, Hypodontia, Sparse hair, M... OMIM:272440
Blepharocheilodontic Syndrome 1
Cleft upper lip, Conical tooth, Hypodontia, Small nail, Nail dysplasia, Sparse hair, High anterio... OMIM:119580
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Thin upper lip vermilion, Curly hair, Slow-growing hair, Highly arched eyebrow, Cryptorchidism, D... OMIM:617506
Fg Syndrome 3
Pyloric stenosis, Cryptorchidism, Fine hair, Frontal upsweep of hair, Sparse hair OMIM:300406
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Curly hair, High palate ORPHA:85184
Woolly Hair, Autosomal Dominant
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... OMIM:194300
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Abnormality of the dentition, Cleft upper lip, Hypogonadism, Hypoplastic nipples, Small nail, Spa... OMIM:273400
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Elevated circulating thyroid-stim... OMIM:274300
Bazex-Dupre-Christol Syndrome
Furrowed tongue, Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa OMIM:301845
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Ascher Syndrome
Abnormal upper lip morphology, High palate, Hypothyroidism, Goiter ORPHA:1253
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Ovarian neoplasm, Macroglossia,... ORPHA:2221
Odontotrichoungual-Digital-Palmar Syndrome
Natal tooth, Abnormality of hair texture, Dental malocclusion, Thick vermilion border, Nail dystr... OMIM:601957
Congenital Short Bowel Syndrome
Intestinal hypoplasia, Sparse hair, Intestinal malrotation ORPHA:2301
Craniofrontonasal Syndrome
Ridged nail, Curly hair, Split nail, Abnormality of the dentition, Cleft upper lip, Cryptorchidis... OMIM:304110
Alopecia Antibody Deficiency
Abnormality of dental color, Abnormal eyelash morphology, Sparse hair, Sparse body hair, Aplasia/... ORPHA:1006
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair OMIM:104100
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Sparse eyebrow, Wide mouth, Widely spaced primary teeth, Reduced... OMIM:300953
Chand Syndrome
Curly hair, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesi... ORPHA:1401
Focal Facial Dermal Dysplasia Type Iii
Sparse lower eyelashes, Highly arched eyebrow, Abnormal hair pattern, Downturned corners of mouth... ORPHA:1807
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Alopecia, Abnormal dental morphology, Abnormal dental enamel morphology, Highly arched eyebrow, C... ORPHA:3253
Keratoderma Hereditarium Mutilans
Alopecia, Hypogonadotropic hypogonadism, Cleft palate, Abnormal toenail morphology, Abnormality o... ORPHA:494
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Decreased... OMIM:146110
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Curly hair, Slow-growing hair, Abnormality of the dentition, Open bite, Absent ey... OMIM:115150
Brachycephaly, Trichomegaly, And Developmental Delay
Brittle hair, Highly arched eyebrow, Supernumerary tooth, Submucous cleft hard palate, Thick lowe... OMIM:617412
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Hypergonadotropic hypogonadism, Sparse body hair, Aplasia/Hypoplasia... ORPHA:2850
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Sparse eyeb... ORPHA:884
Androgen Insensitivity Syndrome
Absent facial hair, Elevated circulating luteinizing hormone level, Sparse axillary hair, Sparse ... OMIM:300068
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair, Thin upper lip vermilion, Enamel hypoplasia OMIM:613576
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Palatine myxoma, Pituitary adenoma, Pheochromo... OMIM:160980
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Sparse pub... OMIM:308750
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
Hereditary Mucoepithelial Dysplasia
Alopecia, Tracheoesophageal fistula, Gingival overgrowth, Fine hair, Furrowed tongue, Sparse hair ORPHA:1839
Vulto-Van Silfhout-De Vries Syndrome
Tented upper lip vermilion, Widow's peak, Thick lower lip vermilion, Fine hair, High palate, Hori... OMIM:615828
Trichohepatoenteric Syndrome 1
Curly hair, Villous atrophy, Brittle hair, Narrow mouth, Fine hair, Wide mouth, Long philtrum, Sp... OMIM:222470
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Brittle hair OMIM:618546
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Everted upper lip vermilion, Sparse eyelashes, Conical tooth, Sparse eyebrow, Oligodontia, Thick ... OMIM:224900
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Brittle hair, Absent nipple, Oligodontia, Everted lower lip vermilion, Hypodontia, Sparse hair, A... OMIM:614940
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Nodular goiter, Papillary thyroid carcinoma, Goiter ORPHA:97290
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse scalp hair, Sparse eyelashes, Abnormal dental enamel morphology, Sparse eyebrow, Scarring ... ORPHA:59303
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... ORPHA:95716
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Alopecia, Celiac disease, Abnormality of the thyroid gland, Primary adrenal i... ORPHA:3143
Naxos Disease
Curly hair, Subungual hyperkeratosis, Sparse eyebrow, Onycholysis, Nail dystrophy, Woolly hair, S... OMIM:601214
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Conical tooth, Absent eyelash... OMIM:614941
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Brittle hair, Abnormality of the anterior pituitary, Coarse hair, Posterior pituitary h... ORPHA:75389
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Pili torti, Fine hair ORPHA:1573
Pachyonychia Congenita 2
Natal tooth, Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Angular cheilitis, Sparse eye... OMIM:167210
Trichothiodystrophy 2, Photosensitive
Coarse hair, Tiger tail banding, Agenesis of maxillary lateral incisor OMIM:616390
Craniofrontonasal Dysplasia
Abnormality of hair texture, Abnormality of the dentition, Widow's peak, Orofacial cleft, Low pos... ORPHA:1520
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair ORPHA:2985
Trichothiodystrophy 8, Nonphotosensitive
Thin upper lip vermilion, Sparse eyebrow, Long philtrum, Sparse hair, Woolly hair, Trichorrhexis ... OMIM:619691
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Hypoplasia of teeth, N... OMIM:234050
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Sparse eyelashes, Abnormal dental enamel morphology, Supernumerary nip... ORPHA:1071
Trichohepatoenteric Syndrome 2
Villous atrophy, Brittle hair, Colitis, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis ... OMIM:614602
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Carious teeth, Absent eyelashes, Cleft palate, Everted lower lip vermil... ORPHA:2316
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Carious teeth, Coarse hair, Brittle hair, Sparse hair ORPHA:1883
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Thin upper lip vermilion, Sparse eyebrow, Wide mouth, Sparse hair, Smooth philtrum OMIM:619989
Cronkhite-Canada Syndrome
Intestinal polyposis, Alopecia, Abnormal fingernail morphology, Malabsorption, Hypoplastic toenai... ORPHA:2930
Heyn-Sproul-Jackson Syndrome
Sparse hair OMIM:618724
Cardiocranial Syndrome, Pfeiffer Type
High, narrow palate, Abnormal hair whorl, Cryptorchidism, Sparse hair, Bifid uvula, Broad philtrum ORPHA:2872
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse body hair OMIM:618535
Müllerian Aplasia And Hyperandrogenism
Thick eyebrow, Frontal balding, Synophrys, Cleft palate, Increased serum testosterone level, Shor... ORPHA:247768
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
High, narrow palate, Deep philtrum, Low anterior hairline, Downturned corners of mouth, Short phi... OMIM:619950
Acrofacial Dysostosis, Palagonia Type
Sparse eyelashes, High, narrow palate, Supernumerary tooth, Low anterior hairline, Oligodontia, U... ORPHA:1787
Cranioectodermal Dysplasia
Abnormal fingernail morphology, Abnormal dental enamel morphology, Abnormality of the dentition, ... ORPHA:1515
Coffin-Siris Syndrome 2
Delayed eruption of teeth, Sparse scalp hair, Thick eyebrow, Absent fifth fingernail, Cryptorchid... OMIM:614607
Progeroid Syndrome, Petty Type
Brittle hair, Abnormal hair morphology, Tooth agenesis, Everted lower lip vermilion, Abnormality ... ORPHA:2963
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Brittle hair, High palate ORPHA:50812
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Thin upper lip vermilion, Curly hair, Abnormal fingernail morphology, Thick hair, Highly arched e... ORPHA:444077
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Multinodular goiter, Nail dystrophy, Premature loss of teeth, Alopecia of scalp OMIM:618373
Fanconi Anemia, Complementation Group S
Macrodontia, Low anterior hairline, Dental malocclusion, Narrow palate, Ovarian neoplasm, Long ey... OMIM:617883
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the thyroid gland, Hypogonadism, Type II diabetes mellitus, Sparse body hair, Decr... ORPHA:2234
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Cryptorchidism, Fine hair, Downturned corners of mouth, Oligodontia, Narrow mouth, Sparse hair, H... OMIM:616817
Oligodontia-Colorectal Cancer Syndrome
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Adenomatous colonic polyposis, Oligodont... OMIM:608615
Ectodermal Dysplasia/Skin Fragility Syndrome
Absent eyebrow, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dystrophic fing... OMIM:604536
Lelis Syndrome
Carious teeth, Yellow nails, Absent lower eyelashes, Furrowed tongue, Hypodontia, Nail dystrophy,... ORPHA:140936
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Thin upper lip vermilion, Diabetes mellitus, Synophrys, Low anterior hairline, Hypoplasia of teet... ORPHA:391408
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... ORPHA:99832
Glutaric Aciduria Iii
Hyperthyroidism, Goiter OMIM:231690
Thyroid Lymphoma
Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:97285
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Curly hair, Sparse scalp hair, Cryptorchidism, Loose anagen hair, Long eyelashes, High palate, Sp... OMIM:607721
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Thick eyebrow, Low anterior hairline, Long eyelashes, Everted lower lip vermilion, Sparse hair, H... OMIM:616819
Weaver Syndrome
Deep-set nails, Abnormal fingernail morphology, Thin nail, Hypoplastic toenails, Cryptorchidism, ... ORPHA:3447
Anauxetic Dysplasia 2
Macroglossia, Hypodontia, Nail dysplasia, Small nail, Sparse hair OMIM:617396
Split-Hand/Foot Malformation 3
Ridged nail, Cleft palate, High palate, Nail dystrophy, Nail dysplasia, Narrow mouth OMIM:246560
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Thin upper lip vermilion, Broad eyebrow, Tented upper lip vermilion, Highly arched eyebrow, Crypt... OMIM:619244
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Carious teeth, Nail dystrophy, Sparse hair, Premature loss of teeth, Oral leukoplakia OMIM:616353
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Decreased circulating dih... OMIM:228300
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Natal tooth, Subungual hyperkeratosis, Scarring alopecia of scalp, Hypoplastic sweat glands, Clef... OMIM:617337
Bamforth-Lazarus Syndrome
Thyroid agenesis, Cleft palate, Congenital hypothyroidism OMIM:241850
Even-Plus Syndrome
Highly arched eyebrow, Synophrys, High palate, Hypodontia, Sparse hair, Anal atresia OMIM:616854
Chromosome 15Q14 Deletion Syndrome
Tented upper lip vermilion, Highly arched eyebrow, Cleft lip, Cleft palate, Short philtrum, Evert... OMIM:616898
Noonan Syndrome 10
Sparse eyebrow, Curly hair, High palate, Cryptorchidism OMIM:616564
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Sparse pub... OMIM:308700
Noonan Syndrome 2
Curly hair, Sparse eyebrow, Cryptorchidism, Low posterior hairline, High palate OMIM:605275
Trichodermodysplasia-Dental Alterations Syndrome
Delayed eruption of teeth, Sparse scalp hair, Brittle hair, Abnormal dental morphology, Supernume... ORPHA:3353
Aredyld Syndrome
Abnormal dental enamel morphology, Aplasia/Hypoplasia of the eyebrow, Type I diabetes mellitus, T... ORPHA:1133
Pendred Syndrome
Hypothyroidism, Hyperparathyroidism, Thyroid carcinoma, Goiter ORPHA:705
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Abnormality of dental color, Sparse axillary hair, Sparse pubic hair, Scarrin... ORPHA:251393
Trichorhinophalangeal Syndrome, Type I
Delayed eruption of teeth, Thin upper lip vermilion, Slow-growing hair, Thin nail, Concave nail, ... OMIM:190350
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Selective tooth agenesis, Supernumerary nipple, Cleft upper lip, Conical tooth,... OMIM:106260
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Brittle hair, Dental crowding, Insulin-resistant diabetes mellitus, Hyperinsulinemia, H... OMIM:608612
Giant Axonal Neuropathy
Woolly hair, Abnormal pituitary gland morphology, Pili canaliculi ORPHA:643
Odontoonychodermal Dysplasia
Ridged nail, Sparse scalp hair, Dry hair, Short nail, Thin nail, Sparse eyebrow, Abnormality of p... OMIM:257980
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Thin upper lip vermilion, Fine hair, Downturned corners of mouth, Long eyelashes, Short philtrum,... ORPHA:231137
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Brittle hair, Carious teeth, Hypoplasia of teeth, Wide mouth, Coarse h... ORPHA:50814
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Tented upper lip vermilion, High palate, Short philtrum, Long philtrum, Sparse hair OMIM:620001
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Decreased circula... ORPHA:95715
Hypotrichosis 14
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair OMIM:618275
Down Syndrome
Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Thick lower lip vermilion... ORPHA:870
Tonne-Kalscheuer Syndrome
Concave nail, Cryptorchidism, Velopharyngeal insufficiency, Fine hair, Downturned corners of mout... OMIM:300978
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:99819
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... ORPHA:64744
Mandibuloacral Dysplasia
Alopecia, Dental crowding, Abnormal tongue morphology, Insulin-resistant diabetes mellitus, Hyper... ORPHA:2457
Hall-Riggs Syndrome
Delayed eruption of teeth, Slow-growing hair, Abnormal dental enamel morphology, Thick hair, Down... ORPHA:2107
Fetal Hydantoin Syndrome
Cryptorchidism, Cleft palate, Low posterior hairline, Wide mouth, Coarse hair, Everted lower lip ... ORPHA:1912
Amaurosis-Hypertrichosis Syndrome
Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow ORPHA:1021
Hypothyroidism Due To Tsh Receptor Mutations
Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod... ORPHA:90673
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Everted lower lip vermilion, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:242300
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Alopecia, Abnormal fingernail morphology, Abnormal oral mucosa morphology, Abnormality of the den... ORPHA:659
Intellectual Developmental Disorder, Autosomal Recessive 5
Thick eyebrow, Synophrys, Short philtrum, Sparse hair, Thick upper lip vermilion, Smooth philtrum OMIM:611091
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... ORPHA:226316
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Thin vermilion border, Short philtrum, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Bangstad Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Goiter OMIM:210740
Cowden Syndrome 7
Intestinal polyposis, Trichilemmoma, Papillary thyroid carcinoma, Ductal carcinoma in situ, Hashi... OMIM:616858
Trichorhinophalangeal Syndrome Type 1
Sparse eyelashes, Abnormality of the dentition, Sparse eyebrow, Supernumerary tooth, Leukonychia,... ORPHA:77258
Rodrigues Blindness
Sparse hair, Tooth malposition, Fine hair OMIM:268320
Cowden Syndrome 5
Colonic diverticula, Hyperthyroidism, Thyroiditis, Furrowed tongue, Hamartomatous polyposis, Ovar... OMIM:615108
Olmsted Syndrome 2
Sparse hair, Woolly hair, Cheilitis, Alopecia universalis OMIM:619208
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T3, Thyr... OMIM:609152
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries, High palate, Sparse hair, High anterior hairline ORPHA:284180
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Goiter OMIM:188580
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Brittle hair, Trichoschisis, Malabsorption, Fine hair, Fragile nails, Tig... OMIM:601675
Zttk Syndrome
Curly hair, Absent gallbladder, Abnormality of the dentition, Sparse eyebrow, Submucous cleft har... OMIM:617140
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Dystrophic toenail OMIM:619209
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Macrog... ORPHA:226313
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Sparse hair, Insulin-resistant diabetes mellitus, Hypergonadotropic hypogonadism, Polycystic ovaries OMIM:268020
Thyrocerebroretinal Syndrome
Goiter OMIM:274240
Intellectual Developmental Disorder, Autosomal Dominant 65
Tented upper lip vermilion, Synophrys, Low posterior hairline, Downturned corners of mouth, Short... OMIM:619320
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormal dental enamel morphology, Abnormality of the dentition, Abnorm... ORPHA:96169
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short lingual frenulum, Short uvula, Cleft palate, Agenesis of permanent teeth, Fine hair, Fused ... OMIM:614091
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Abnormality of the dentition, Conical tooth, Cryptorchidism, Fine hair, Hypogonadism, B... ORPHA:228390
Multiple Endocrine Neoplasia, Type Iib
Colonic diverticula, Aganglionic megacolon, High, narrow palate, Thick lower lip vermilion, High ... OMIM:162300
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Thin upper lip vermilion, Patchy alopecia, Long philtrum, Sparse hair, Hypothyroidism OMIM:617763
Complete Androgen Insensitivity Syndrome
Sparse axillary hair, Elevated circulating luteinizing hormone level, Sparse pubic hair, Bilatera... ORPHA:99429
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Leukonychia, Tooth agenesis, Nail dystrophy, Woolly hair, Fragile nails, Gingival recession OMIM:615821
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Hypogonadotropic hyp... ORPHA:52901
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Goiter OMIM:617577
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Slow-growing hair, Abnormal hair morphology, Cryptorchidism, Abnormal palate morphology, Uncombab... ORPHA:3082
Cowden Syndrome 6
Colonic diverticula, Hyperthyroidism, Thyroiditis, Furrowed tongue, Hamartomatous polyposis, Ovar... OMIM:615109
Tyshchenko Syndrome
Thick hair, Supernumerary nipple, High, narrow palate, Cryptorchidism, Low anterior hairline, Cle... OMIM:615102
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal dental enamel morphology, Abnormal palate morphology, Fine hair ORPHA:3236
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Sparse scalp hair, Fine hair ORPHA:2324
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:424
Maffucci Syndrome
Neoplasm of the adrenal cortex, Neoplasm of the parathyroid gland, Pituitary adenoma, Ovarian neo... ORPHA:163634
Trichorhinophalangeal Syndrome, Type Iii
Thin upper lip vermilion, Dental crowding, Supernumerary tooth, Long philtrum, Sparse hair, Smoot... OMIM:190351
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Abnormal dental morphology, Abnormality of the dentit... ORPHA:978
Thyrocerebrorenal Syndrome
Euthyroid goiter ORPHA:3327
Normosmic Congenital Hypogonadotropic Hypogonadism
Decreased testicular size, Hypogonadotropic hypogonadism, Female hypogonadism, Abnormality of the... ORPHA:432
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Orofacial cleft, Hypogonadism, Sparse hair, Decreased testicular size, Thick eyebrow ORPHA:127
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Thin upper lip vermilion, Curly hair, Abnormality of the dentition, Abnormal circulating thyroid ... ORPHA:480880
19Q13.11 Microdeletion Syndrome
Supernumerary nipple, Cryptorchidism, Fine hair, Wide mouth, Sparse or absent eyelashes, Thin ver... ORPHA:217346
Monosomy 18P
Alopecia, Carious teeth, Cleft palate, Low posterior hairline, Downturned corners of mouth, Short... ORPHA:1598
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Thin upper lip vermilion, Alopecia, Abnormal eyebrow morphology, Sparse facial hair, Streak ovary... ORPHA:2232
Hallermann-Streiff Syndrome
Natal tooth, Alopecia, Sparse eyelashes, Abnormality of the dentition, Sparse eyebrow, High, narr... ORPHA:2108
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Thin upper lip vermilion, Brittle hair, Carious teeth, Cryptorchidism,... OMIM:607812
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Synophrys, Narrow palate, Hypoplasia of teeth, Wide mouth, Fine hair, Thick vermilion border, Sho... OMIM:620250
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Tented upper lip vermilion, High palate, Short philtrum, Long philtrum, Sparse hair OMIM:614105
Ifap Syndrome 2
Sparse hair, Nail dystrophy, Angular cheilitis, Atrichia OMIM:619016
Hamamy Syndrome
Hypoparathyroidism, Thin upper lip vermilion, Abnormal number of hair whorls, Sparse eyelashes, S... OMIM:611174
Papillon-Lefèvre Syndrome
Severe periodontitis, Abnormal fingernail morphology, Premature loss of primary teeth, Abnormalit... ORPHA:678
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth, Fine hair OMIM:272300
Trichothiodystrophy 6, Nonphotosensitive
Tiger tail banding, Brittle hair, Slow-growing hair OMIM:616943
Cutis Laxa, Autosomal Recessive, Type Iia
Brittle hair, Abnormality of hair texture, Carious teeth, Narrow mouth, Coarse hair, High palate,... OMIM:219200
Macs Syndrome
Irregular dentition, Alopecia, Hypergonadotropic hypogonadism, Sparse eyebrow, Cryptorchidism, Gi... OMIM:613075
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Woolly hair OMIM:611528
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Everted upper lip vermilion, Brittle hair, Absent nipple, Abnormal oral mucosa mo... OMIM:305100
Waardenburg Syndrome Type 1
Hypopigmentation of hair, Tented upper lip vermilion, Aganglionic megacolon, White eyelashes, Whi... ORPHA:894
Trichothiodystrophy 3, Photosensitive
Natal tooth, Brittle hair, Carious teeth, Pyloric stenosis, Bilateral cryptorchidism, Eclabion, T... OMIM:616395
Woodhouse-Sakati Syndrome
Alopecia, Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Hypergonad... OMIM:241080
Joubert Syndrome 37
Sparse hair, Cryptorchidism, High palate, Decreased testicular size OMIM:619185
Incontinentia Pigmenti
Delayed eruption of teeth, Ridged nail, Alopecia, Supernumerary nipple, Conical tooth, Nail pits,... OMIM:308300
Rhizomelic Chondrodysplasia Punctata
Alopecia, Sparse body hair, Abnormality of the dentition ORPHA:177
Holoprosencephaly 11
Cleft lip, Synophrys, Thick eyebrow, Cleft palate OMIM:614226
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Dental crowding, Decreased response to growth hormone stimulation test, Deep philtrum, Synophrys,... OMIM:619503
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Oligodontia, Bile duct proliferation, Hyp... OMIM:607626
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Hydrocele testis, Sparse body hair ORPHA:69735
Costello Syndrome
Deep-set nails, Abnormal fingernail morphology, Abnormal dental enamel morphology, Abnormality of... ORPHA:3071
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Pheochromocytoma, Elevated circulating calcitonin concentration, Nod... ORPHA:1332
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Conical tooth, Inflammation of the large intestine, Nail dystrophy, Sparse hair, Hypopituitarism ORPHA:98813
Orofaciodigital Syndrome Type 3
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Abnormality of hair textu... ORPHA:2752
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Abnormal dental enamel morphology, Supernumerary nipple, Cryptorchidism, Cleft palate, Fine hair,... ORPHA:1812
Distal Duplication 6P
Abnormal hair quantity, Abnormal eyelash morphology, Fine hair, Thin vermilion border, Narrow mouth ORPHA:1745
Pallister-Hall Syndrome
Thyroid dysgenesis, Natal tooth, Decreased circulating cortisol level, Decreased response to grow... OMIM:146510
Anaplastic Thyroid Carcinoma
Nodular goiter, Anaplastic thyroid carcinoma, Tracheoesophageal fistula, Goiter ORPHA:142
Lamellar Ichthyosis
Abnormality of the dentition, Everted lower lip vermilion, Sparse hair, Abnormality of the nail, ... ORPHA:313
Glass Syndrome
Dental crowding, Conical tooth, Pierre-Robin sequence, Gingival overgrowth, Cleft palate, Oligodo... OMIM:612313
Bathing Suit Ichthyosis
Eclabion, Alopecia, Sparse hair, Nail dystrophy ORPHA:100976
Intellectual Disability, Buenos-Aires Type
Abnormal dental morphology, Abnormal fingernail morphology, Open bite, Dental malocclusion, Hyper... ORPHA:3079
Cowden Syndrome 1
Colonic diverticula, Hyperthyroidism, Thyroiditis, Furrowed tongue, Hamartomatous polyposis, Ovar... OMIM:158350
Netherton Syndrome
Sparse scalp hair, Sparse eyelashes, Malabsorption, Sparse eyebrow, Abnormal hair morphology, Fin... ORPHA:634
Costello Syndrome
Deep-set nails, Curly hair, Thin nail, Concave nail, Pyloric stenosis, Thick lower lip vermilion,... OMIM:218040
Chromosome 5P13 Duplication Syndrome
Low posterior hairline, Downturned corners of mouth, High palate, Short philtrum, Sparse hair OMIM:613174
Nablus Mask-Like Facial Syndrome
Thin upper lip vermilion, Sparse eyelashes, Highly arched eyebrow, Abnormality of the dentition, ... OMIM:608156
Peeling Skin Syndrome 1
Brittle hair, Onycholysis, Nail dystrophy OMIM:270300
Rothmund-Thomson Syndrome, Type 2
Delayed eruption of teeth, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent ... OMIM:268400
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Brittle hair, Sparse eyebrow, Hydrocele testis, Narrow mouth, Neonatal death OMIM:618810
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Dental crowding, Sparse eyelashes, Dental malocclusion, Hypoplasia of ... OMIM:257850
Cerebrofaciothoracic Dysplasia
Thick eyebrow, Abnormal hair pattern, Cleft upper lip, Synophrys, Cleft palate, Low posterior hai... ORPHA:1394
Menkes Disease
Sparse hair, Alopecia, Brittle hair OMIM:309400
Short Syndrome
Alopecia, Diabetes mellitus, Abnormal dental enamel morphology, Abnormality of the dentition, Spa... ORPHA:3163
Desbuquois Syndrome
Sparse hair, Abnormal eyelash morphology ORPHA:1425
Osteogenesis Imperfecta, Type Xx
Tented upper lip vermilion, Highly arched eyebrow, Narrow palate, Agenesis of permanent teeth, Hi... OMIM:618644
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormality of upper lip vermillion, Dental crowding, Abnormality of the dentition, Narrow mouth,... ORPHA:251028
Oculodentodigital Dysplasia
Dry hair, Slow-growing hair, Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft pala... OMIM:164200
Shukla-Vernon Syndrome
Sparse hair OMIM:301029
Acrogeria
Fine hair ORPHA:2500
Mandibulofacial Dysostosis With Alopecia
Alopecia, Dental crowding, Sparse eyelashes, Delayed eruption of primary teeth, Cleft palate, Glo... OMIM:616367
Acrofacial Dysostosis, Catania Type
Smooth philtrum, Abnormal hair pattern, Abnormality of the dentition, Carious teeth, Cryptorchidi... ORPHA:1786
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Thin upper lip vermilion, Fine hair, Wide mouth, Widely-spaced maxillary central incisors, High p... ORPHA:363686
Alstrom Syndrome
Alopecia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ... OMIM:203800
Adiposis Dolorosa
Sparse pubic hair, Hypothyroidism, Xerostomia, Sparse axillary hair ORPHA:36397
Mucopolysaccharidosis, Type Iiic
Synophrys, Coarse hair, Everted lower lip vermilion, Hirsutism, Hypertrichosis OMIM:252930
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Brittle hair, Dental crowding, Pierre-Robin sequence, Cleft palate, Oligodontia, Thick vermilion ... OMIM:619184
Netherton Syndrome
Sparse scalp hair, Villous atrophy, Brittle hair, Brittle scalp hair, Sparse eyebrow, Intestinal ... OMIM:256500
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:218700
Jaberi-Elahi Syndrome
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair, Triangular mouth OMIM:617988
Olmsted Syndrome 1
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis OMIM:614594
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hypogonadotropic hypogonadism, Tracheoesophageal fistula, Abnormal palate morphology, Sparse body... ORPHA:3068
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Synophrys, Gingival overgrowth, Fine hair, Long philtrum, Smooth philtrum OMIM:619428
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Sparse facial hair, Sparse axillary hair OMIM:608154
Congenital Disorder Of Glycosylation, Type Iia
Thick eyebrow, Macrodontia, Protruding tongue, Diastema, Gingival overgrowth, Wide mouth, Thin ve... OMIM:212066
Limb-Mammary Syndrome
Cleft palate, Hypoplastic nipples, Nail dysplasia, Hypodontia, Bifid uvula OMIM:603543
Teebi-Shaltout Syndrome
Slow-growing hair, Highly arched eyebrow, High, narrow palate, Low anterior hairline, Cleft palat... OMIM:272950
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Pituitary hy... ORPHA:90674
Lymphatic Malformation 5
Yellow nails, Cleft palate OMIM:153200
Combined Immunodeficiency-Enteropathy Spectrum
Absent eyebrow, Intestinal malrotation, Jejunoileal ulceration, Rectal abscess, Nail dystrophy, H... ORPHA:436252
Mucoepithelial Dysplasia, Hereditary
Alopecia, Erythematous oral mucosa, Furrowed tongue, Coarse hair, Nail dystrophy, Nail dysplasia,... OMIM:158310
Treacher-Collins Syndrome
Low anterior hairline, Glossoptosis, High palate, Hypoplasia of the thymus, Branchial fistula, Ab... ORPHA:861
Marshall Syndrome
Sparse eyelashes, Abnormality of the dentition, Sparse eyebrow, Thick lower lip vermilion, Cleft ... ORPHA:560
Orofaciodigital Syndrome I
Dry hair, Median cleft lip, Alopecia, Hamartoma of tongue, Cleft upper lip, Carious teeth, Pancre... OMIM:311200
46,Xx Gonadal Dysgenesis
Streak ovary, Sparse pubic hair, Increased circulating gonadotropin level, Decreased serum estrad... ORPHA:243
Ectodermal Dysplasia-Blindness Syndrome
Sparse hair, Fine hair, Abnormal fingernail morphology, Abnormality of the dentition ORPHA:1806
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Brittle hair, Submucous cleft hard palate, Fine hair, Type II diabetes mellitus, Delayed puberty,... OMIM:618891
Arthrogryposis And Ectodermal Dysplasia
Absent eyebrow, Diabetes mellitus, Abnormal dental enamel morphology, Trichiasis, Cleft upper lip... OMIM:601701
Revesz Syndrome
Nail pits, Fine hair, Nail dystrophy, Sparse hair, Oral leukoplakia, Ridged fingernail OMIM:268130
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... ORPHA:91347
Chromosome 19Q13.11 Deletion Syndrome, Distal
Sparse eyelashes, Carious teeth, Sparse eyebrow, Cryptorchidism, Thin vermilion border, Short phi... OMIM:613026
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,... ORPHA:35173
Adult Syndrome
Premature loss of permanent teeth, Sparse scalp hair, Absent nipple, Fair hair, Sparse axillary h... OMIM:103285
Bainbridge-Ropers Syndrome
Thin upper lip vermilion, Thick eyebrow, Dental crowding, Intestinal malrotation, Highly arched e... OMIM:615485
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Sparse eyebrow, Tooth agenesis, Nail dystrophy, Woolly hair OMIM:605676
Tooth Agenesis, Selective, 4
Sparse scalp hair, Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Too... OMIM:150400
Ruijs-Aalfs Syndrome
Premature graying of hair, Hypogonadism, Sparse hair OMIM:616200
Orofaciodigital Syndrome Type 1
Alopecia, Median cleft lip, Brittle hair, Abnormal dental enamel morphology, Accessory oral frenu... ORPHA:2750
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Sparse hair, Reduced circulating growth hormone concentration, Eosinophilic infiltration of the e... OMIM:615508
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Increased circulating cor... OMIM:171400
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Sparse hair, Hirsutism OMIM:618087
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Cleft palate, Furrowed tongue, High palate, Short philtrum, Everted l... OMIM:616449
Dyskeratosis Congenita
White hair, Premature graying of hair, Periodontitis, Sparse hair, Alopecia, Abnormal fingernail ... ORPHA:1775
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... ORPHA:199306
Macrocephaly/Autism Syndrome
Hydrocele testis, Coarse hair, High palate, Long philtrum OMIM:605309
Scarf Syndrome
Cryptorchidism, Low posterior hairline, Hypoplastic nipples, Long philtrum, Sparse hair, Enamel h... ORPHA:3134
Eec Syndrome
Slow-growing hair, Abnormal dental enamel morphology, Decreased response to growth hormone stimul... ORPHA:1896
Mucopolysaccharidosis, Type Iiib
Synophrys, Coarse hair, Hirsutism OMIM:252920
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Woolly hair OMIM:607450
Opitz-Kaveggia Syndrome
Anal stenosis, Dental crowding, Intestinal malrotation, Cleft upper lip, Pyloric stenosis, Crypto... OMIM:305450
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Broad lateral eyebrow, Curly hair, Absent gallbladder, Sparse eyebrow, Cleft palate, Downturned c... ORPHA:500150
Ogden Syndrome
Everted upper lip vermilion, Cryptorchidism, High, narrow palate, Fine hair, Aplasia/Hypoplasia o... ORPHA:276432
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Macroglossia, Dry hair, Brittle hair, Nail dystrophy ORPHA:93947
Trisomy 20P
Smooth philtrum, Thick eyebrow, Macroorchidism, Thick hair, Highly arched eyebrow, Abnormality of... ORPHA:261318
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Conical tooth, Sparse eyebrow, Bilateral cryptorchidism, Fine... OMIM:613451
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased testicular size, Hypergonadotropic hypogonadism, Sparse axillary hair, Elevated circula... ORPHA:90796
Hallermann-Streiff Syndrome
Natal tooth, Sparse scalp hair, Sparse eyelashes, Selective tooth agenesis, Sparse eyebrow, High,... OMIM:234100
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Sparse pubic hair, Breast aplasia, Elevated circu... ORPHA:3044
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Selective tooth agenesis, Decreased response to growth hormone stimulati... OMIM:129900
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Anterior open-bite malocclusion, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:83601
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Intestinal malrotation, Cleft palate, Euthyroid goiter, High p... OMIM:113650
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Abnormality of the thyroid gland, E... ORPHA:209905
Spinocerebellar Ataxia-Dysmorphism Syndrome
Downturned corners of mouth, Coarse hair, Thick vermilion border ORPHA:1185
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Sparse hair, Hyperconvex nail, Long philtrum OMIM:619721
Mucopolysaccharidosis, Type Iiia
Synophrys, Coarse hair, Hirsutism OMIM:252900
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Premature thelarche, Polycystic ovaries, Type I diabetes mellitus, Nodular goiter, Hirsutism ORPHA:371428
Cartilage-Hair Hypoplasia
Anal stenosis, Aganglionic megacolon, Sparse facial hair, Sparse eyelashes, Malabsorption, Sparse... OMIM:250250
Monosomy 22
Aplasia of the thymus, Synophrys, Thin vermilion border, High palate, Long philtrum, Sparse hair,... ORPHA:96123
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Carious teeth, Nail pits, Premature graying of hair, Nail dystrophy, Spars... OMIM:127550
Koolen-De Vries Syndrome
Cleft upper lip, Abnormality of hair texture, Pyloric stenosis, Cryptorchidism, Narrow palate, Cl... OMIM:610443
Cerebrooculofacioskeletal Syndrome 2
Sparse hair OMIM:610756
Gorlin-Chaudhry-Moss Syndrome
Abnormality of the dentition, Low anterior hairline, Oligodontia, Coarse hair, Generalized hirsutism ORPHA:2095
Nicolaides-Baraitser Syndrome
Smooth philtrum, Thin upper lip vermilion, Dry hair, Absent eyebrow, Short lingual frenulum, Spar... OMIM:601358
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Cryptorchidism, Fine hair, Premature graying of hair, Nail dysplasia, Oral leukoplakia OMIM:613990
Familial Multinodular Goiter
Hyperthyroidism, Pilomatrixoma, Multinodular goiter, Ovarian neoplasm, Colorectal polyposis, Thyr... ORPHA:276399
Cardiofaciocutaneous Syndrome
Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Cryptorchidism, Submucous cleft har... ORPHA:1340
Cutis Laxa, Autosomal Recessive, Type Iiib
Pyloric stenosis, Cryptorchidism, Fine hair, Thin vermilion border, Sparse hair OMIM:614438
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Hypopigmentation of hair, Open bite, Deep philtrum, Widow's peak, Wide mouth, Coarse ha... ORPHA:1974
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, Elevated circulating growth hor... ORPHA:562
Gapo Syndrome
Alopecia, Sparse eyelashes, Sparse eyebrow, High, narrow palate, Thick lower lip vermilion, Erupt... OMIM:230740
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Thyrotoxicosis with diffuse goiter, Increased circulating free T3,... ORPHA:525731
Cutis Laxa, Autosomal Recessive, Type Iiia
Sparse hair, Cryptorchidism, Narrow mouth OMIM:219150
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Thick hair, Carious teeth, Coarse hair, High palate, Long philtrum, Sparse hair, Smooth philtrum ORPHA:357074
Familial Adenomatous Polyposis
Duodenal polyposis, Multiple gastric polyps, Eruption failure, Papillary thyroid carcinoma, Adeno... ORPHA:733
Lethal Acantholytic Erosive Disorder
Natal tooth, Absent eyebrow, Absent eyelashes, Cleft palate, Absent toenail, Absent fingernail, C... ORPHA:158687
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
High palate, Brittle hair, Dental crowding OMIM:236200
Bone Marrow Failure Syndrome 3
Pancreatic steatosis, Cryptorchidism, Oral ulcer, Downturned corners of mouth, Hypodontia, Sparse... OMIM:617052
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Rothmund-Thomson Syndrome Type 1
Delayed eruption of teeth, Abnormal dental enamel morphology, Alopecia totalis, Abnormality of th... ORPHA:221008
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Sparse hair, Alopecia, Fragile nails OMIM:242150
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Thyroid hypoplasia, Thyroid agenesis, Cryptorchidism, Submucous cleft hard pa... ORPHA:3047
Cranioectodermal Dysplasia 3
Short nail, Broad nail, Hypoplasia of teeth, Fine hair, Everted lower lip vermilion, Widely space... OMIM:614099
Scalp-Ear-Nipple Syndrome
Delayed eruption of teeth, Abnormal fingernail morphology, Abnormality of the dentition, Breast a... ORPHA:2036
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Nail dystrophy,... ORPHA:1010
Scarf Syndrome
Cryptorchidism, Low anterior hairline, Low posterior hairline, Hypoplastic nipples, Long philtrum... OMIM:312830
2P15P16.1 Microdeletion Syndrome
Supernumerary nipple, Sparse eyebrow, Narrow mouth, Fine hair, Everted lower lip vermilion, High ... ORPHA:261349
Mosaic Variegated Aneuploidy Syndrome 2
Decreased response to growth hormone stimulation test, Narrow mouth, Sparse hair, Hypothyroidism,... OMIM:614114
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Diabetes mellitus, Abnormality of the dentition, Small nail, Long philtrum, Sparse hair, Nail dys... OMIM:614813
Intellectual Developmental Disorder, Autosomal Dominant 66
Sparse hair OMIM:619910
Ectodermal Dysplasia And Immunodeficiency 1
Sparse hair, Conical incisor, Aplasia of the eccrine sweat glands OMIM:300291
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Thin upper lip vermilion, Natal tooth, Absent nipple, Aplasia of the thymus, Thyr... OMIM:620186
Mitochondrial Complex I Deficiency, Nuclear Type 33
Sparse hair OMIM:618253
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Sparse hair, Alopecia, Abnormal dental enamel morphology, Abnormal toenail morphology ORPHA:1005
Short Stature, Microcephaly, And Endocrine Dysfunction
Diabetes mellitus, Cryptorchidism, Sparse hair, Tooth malposition, Hypothyroidism OMIM:616541
Rothmund-Thomson Syndrome
Delayed eruption of teeth, Sparse eyelashes, Abnormal dental enamel morphology, Selective tooth a... ORPHA:2909
Thyroid Hypoplasia
Macroglossia, Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Sparse eyelashes, Sparse eyebrow, Thick vermilion border, Small nail, Sparse hair, High anterior ... OMIM:250410
Schimke Immunoosseous Dysplasia
Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Fine ha... OMIM:242900
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Hypothyroidism, Dry hair, Low anterior hairline OMIM:618569
Lateral Meningocele Syndrome
Dental crowding, Cryptorchidism, Cleft palate, Coarse hair, High palate, Long philtrum, Smooth ph... OMIM:130720
Autosomal Dominant Popliteal Pterygium Syndrome
Thin upper lip vermilion, Lip pit, Cryptorchidism, Non-midline cleft lip, Fibrous syngnathia, Cle... ORPHA:1300
Goldberg-Shprintzen Syndrome
Aganglionic megacolon, Highly arched eyebrow, Synophrys, Oligodontia, Everted lower lip vermilion... OMIM:609460
Genitopatellar Syndrome
Delayed eruption of teeth, Sparse scalp hair, Cryptorchidism, Fine hair, Long philtrum ORPHA:85201
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... ORPHA:158668
Thyroid Ectopia
Abnormality of the thyroid gland, Macroglossia, Hypothyroidism, Ectopic thyroid ORPHA:95712
Ectodermal Dysplasia And Immunodeficiency 2
Sparse scalp hair, Conical tooth, Aplasia of the sweat glands, Hypodontia, Sparse hair OMIM:612132
Chime Syndrome
Abnormal dental morphology, Abnormality of the dentition, Supernumerary tooth, Cleft palate, Fine... ORPHA:3474
Dubowitz Syndrome
Delayed eruption of teeth, Sparse scalp hair, Anal stenosis, Hypoparathyroidism, Abnormal fingern... ORPHA:235
White-Sutton Syndrome
Cleft palate, Downturned corners of mouth, Thin vermilion border, Short philtrum, High palate, Sp... OMIM:616364
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Sparse hair, Long upper lip, Cleft palate OMIM:615349
Galloway-Mowat Syndrome 9
Coarse hair, Hiatus hernia OMIM:619603
46,Xy Sex Reversal 6
Dysgerminoma, Hirsutism, Sparse axillary hair OMIM:613762
Rothmund-Thomson Syndrome Type 2
Delayed eruption of teeth, Abnormal dental enamel morphology, Alopecia totalis, Abnormality of th... ORPHA:221016
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Fine hair, Premature graying of hair, Intestinal bleeding, Nail dystrophy, Nail dysplasia, Sparse... OMIM:612199
Blepharophimosis, Ptosis, And Epicanthus Inversus
Sparse pubic hair, Increased circulating gonadotropin level, High palate, Highly arched eyebrow OMIM:110100
Adams-Oliver Syndrome
Alopecia, Esophageal varix, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Hypopla... ORPHA:974
Mucopolysaccharidosis-Plus Syndrome
Synophrys, Low anterior hairline, Low posterior hairline, Macroglossia, Coarse hair, Thick vermil... OMIM:617303
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Thick eyebrow, Thin vermilion border, Fine hair, Long philtrum OMIM:614800
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormality of hair texture, Abnormality of the dentition ORPHA:88618
Tetraamelia Syndrome 2
Absent nipple, Bilateral cleft lip, Cleft palate, Glossoptosis, Ankyloglossia OMIM:618021
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Coarse hair OMIM:118650
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Delayed eruption of teeth, Highly arched eyebrow, Cleft lip, Thick lower lip vermilion, Cleft pal... OMIM:280000
Mucopolysaccharidosis, Type Iiid
Thick eyebrow, Synophrys, Thick lower lip vermilion, Wide mouth, Macroglossia, Coarse hair, Thick... OMIM:252940
Adrenomyeloneuropathy
Frontal balding, Intra-oral hyperpigmentation, Primary adrenal insufficiency, Fine hair, Adrenoco... ORPHA:139399
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Hypogonadism, Esophagitis, Abnormality of hair texture ORPHA:79351
Cerebellar-Facial-Dental Syndrome
Sparse eyebrow, Cryptorchidism, Dental malocclusion, Alveolar ridge overgrowth, Fine hair, Taurod... ORPHA:444072
Hawkinsinuria
Sparse hair OMIM:140350
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Woolly hair OMIM:610193
Ablepharon Macrostomia Syndrome
Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Wide mouth, Thin vermilion bo... ORPHA:920
Syndromic Diarrhea
Villous atrophy, Brittle hair, Gastritis, Hypopigmentation of hair, Colitis, Hypoplasia of the th... ORPHA:84064
Kaufman Oculocerebrofacial Syndrome
Thin upper lip vermilion, Intestinal malrotation, Diastema, Carious teeth, Sparse eyebrow, High p... OMIM:244450
Multiple Sulfatase Deficiency
Coarse hair, Thick eyebrow, Smooth philtrum ORPHA:585
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Narrow philtrum, Elevated circulating thyroid-stimulating hormone conc... OMIM:601812
Carney Complex
Neoplasm of the stomach, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, O... ORPHA:1359
Sting-Associated Vasculopathy, Infantile-Onset
Sparse hair, Nailfold capillary tortuosity, Nail dystrophy, Periungual erythema OMIM:615934
Limb-Mammary Syndrome
Alopecia, Absent nipple, Cleft hard palate, Cleft lip, Sparse eyebrow, Aplasia of the ovary, Clef... ORPHA:69085
Agel Amyloidosis
Sparse hair, Tongue atrophy, Xerostomia, Nail dystrophy ORPHA:85448
Kid Syndrome
Sparse eyelashes, Lip fissure, Angular cheilitis, Abnormality of the dentition, Sparse eyebrow, S... ORPHA:477
Cranioectodermal Dysplasia 1
Slow-growing hair, Short nail, Thin nail, High, narrow palate, Fine hair, High palate, Widely spa... OMIM:218330
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Selective tooth agenesis, Decreased response to growth hormone stimulati... OMIM:604292
Cerebellofaciodental Syndrome
Sparse eyebrow, Cryptorchidism, Dental malocclusion, Fine hair, Taurodontia, Macrodontia of perma... OMIM:616202
Distal Deletion 12Q
Median cleft lip, Diabetes mellitus, Unilateral cryptorchidism, Maturity-onset diabetes of the yo... ORPHA:96149
Phosphoribosylpyrophosphate Synthetase Superactivity
Wide mouth, Cryptorchidism, High palate, Sparse hair OMIM:300661
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Absent eyelashes, Pulmonary carcinoid tumor, Premature graying of hair, Sparse ha... ORPHA:363618
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Fine hair, Tooth agenesis, Microdontia, Aplasia/Hypoplasia of the eyebrow ORPHA:2637
Trichothiodystrophy
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Concave nail, Carious teeth, High, narr... ORPHA:33364
Hajdu-Cheney Syndrome
Abnormal fingernail morphology, Intestinal malrotation, Abnormality of the dentition, Open bite, ... ORPHA:955
Culler-Jones Syndrome
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cleft upper lip, Cryptorchidism, Clef... OMIM:615849
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Alopecia, Adrenal hypoplasia, Cleft upper lip, Stillbirth, Small nail, Thyroid hypoplasia OMIM:308050
Marshall-Smith Syndrome
Eclabion, Irregular dentition, Brittle hair, Highly arched eyebrow, Bilateral cryptorchidism, Pyl... OMIM:602535
Lenz-Majewski Hyperostotic Dwarfism
Anterior pituitary hypoplasia, Abnormality of the dentition, Cryptorchidism, Cleft palate, Anteri... OMIM:151050
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Highly arched eyebrow, Cryptorchidism, Deep philtrum, Low posterior hairline, Fine hair, Thick ve... OMIM:613563
Scalp-Ear-Nipple Syndrome
Sparse axillary hair, Sparse pubic hair, Agenesis of permanent teeth, Fine hair, Patchy alopecia,... OMIM:181270
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Downturned corners of mouth, Coarse hair, Nail dysplasia, Abnormality of the dentition OMIM:612394
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Dental crowding, Deep philtrum, Gingivitis, Periodontitis, Abnormal dental e... ORPHA:534
Weaver Syndrome
Deep-set nails, Thin nail, Cryptorchidism, Fine hair, Hydrocele testis, Long philtrum, Sparse hair OMIM:277590
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Thin upper lip vermilion, High, narrow palate, Synophrys, Long philtrum, Sparse hair, Toenail dys... OMIM:300966
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
White hair, Aganglionic megacolon, Fine hair, Malabsorption ORPHA:935
De Barsy Syndrome
Delayed eruption of teeth, Narrow mouth, Cryptorchidism, High palate, Small, conical teeth, Spars... ORPHA:2962
Diamond-Blackfan Anemia 21
Synophrys, Widow's peak, Coarse hair, Horizontal eyebrow, Narrow mouth OMIM:620072
Atypical Werner Syndrome
Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Alopecia, Abnormal circ... ORPHA:79474
Cowden Syndrome
Follicular thyroid carcinoma, Enlarged polycystic ovaries, Abnormality of the thyroid gland, Furr... ORPHA:201
Noonan Syndrome
Abnormal hair quantity, Hypogonadotropic hypogonadism, Cryptorchidism, Thick lower lip vermilion,... ORPHA:648
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse hair, Patchy alopecia, Sparse eyelashes, Sparse eyebrow OMIM:302960
Renpenning Syndrome 1
Thin upper lip vermilion, Brittle hair, Macrodontia, Cleft palate, High palate, Short philtrum, N... OMIM:309500
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Abnormality of hair texture, Synophrys, Dental malocclusion, Hypoplastic sweat glands, Localized ... ORPHA:73223
Mucopolysaccharidosis, Type Vii
Thick eyebrow, Gingival overgrowth, Macroglossia, Coarse hair, Widely spaced teeth, Hirsutism OMIM:253220
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Intestinal malrotation, Hypoplastic philtrum, Hiatus hernia, Precocious puberty, Cryptorchidism, ... OMIM:616682
Multiple Endocrine Neoplasia Type 2
Paraganglioma of head and neck, Aganglionic megacolon, Thyroid C cell hyperplasia, Abnormal tongu... ORPHA:653
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Pilomatrixoma, Multinodular goiter, Adenocarcinoma of the colon OMIM:620189
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Alopecia, Cryptorchidism, Submucous cleft hard palate, Loss of eyelashes, Cleft palate, Abnormal ... ORPHA:2636
Intellectual Developmental Disorder, Autosomal Dominant 54
Dental crowding, Thin nail, Delayed eruption of primary teeth, Widely spaced teeth, Sparse hair OMIM:617799
Fontaine Progeroid Syndrome
High, narrow palate, Synophrys, Low anterior hairline, Anteriorly placed anus, Oligodontia, Coars... OMIM:612289
Intellectual Developmental Disorder, Autosomal Dominant 68
Wide mouth, High palate, Sparse hair OMIM:619934
Cranioectodermal Dysplasia 2
Sparse eyelashes, Sparse eyebrow, Cleft palate, Broad philtrum, Fused teeth, High palate, Widely ... OMIM:613610
46,Xy Partial Gonadal Dysgenesis
Decreased serum testosterone concentration, Streak ovary, Hypergonadotropic hypogonadism, Sparse ... ORPHA:251510
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Dental crowding, Rectal prolapse, Pseudohypoparathyroidism, Thin vermilion border, High palate, L... OMIM:617157
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Tented upper lip vermilion, Congenital hypothyroidism, Delayed eruption of permanent teeth, Short... ORPHA:521445
Myhre Syndrome
Thin upper lip vermilion, Cleft lip, Cryptorchidism, Cleft palate, Fine hair, Short philtrum, Nar... OMIM:139210
Holoprosencephaly-Postaxial Polydactyly Syndrome
Intestinal malrotation, Adrenal hypoplasia, Cryptorchidism, Cleft palate, Orofacial cleft, Narrow... ORPHA:2166
Melnick-Needles Syndrome
Delayed eruption of teeth, Frontal hirsutism, Cleft palate, Coarse hair, Stillbirth, Tooth malpos... OMIM:309350
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Cryptorchidism, Thick vermilion border, Sparse hair, Microdontia, Hypothyroidism, Smooth philtrum OMIM:620005
Argininosuccinic Aciduria
Dry hair, Brittle hair, Trichorrhexis nodosa OMIM:207900
Coffin-Siris Syndrome 1
Dry hair, Conical tooth, Short philtrum, High palate, Microdontia, Cryptorchidism, Intussusceptio... OMIM:135900
Chilton-Okur-Chung Neurodevelopmental Syndrome
Thin upper lip vermilion, Sparse scalp hair, Anterior pituitary hypoplasia, Highly arched eyebrow... OMIM:619841
Focal Dermal Hypoplasia
Ridged nail, Brittle hair, Anteriorly placed anus, Oligodontia, Absent fingernail, Sparse hair, C... OMIM:305600
Cockayne Syndrome A
Dry hair, Delayed eruption of primary teeth, Carious teeth, Cryptorchidism, Dental malocclusion, ... OMIM:216400
Mandibuloacral Dysplasia Progeroid Syndrome
Sparse eyebrow, Intra-oral hyperpigmentation, High palate, Hypodontia, Short philtrum, Narrow mou... OMIM:619127
Roberts Syndrome
Cleft upper lip, Cryptorchidism, Cleft palate, High palate, Sparse hair ORPHA:3103
Menke-Hennekam Syndrome 1
Thin upper lip vermilion, Everted upper lip vermilion, Cryptorchidism, Deep philtrum, Cleft palat... OMIM:618332
Mucolipidosis Ii Alpha/Beta
Brittle hair, Sparse eyebrow, Gingival overgrowth, Wide mouth, Macroglossia, Long philtrum, Spars... OMIM:252500
Neurocardiofaciodigital Syndrome
Sparse hair, Thin vermilion border, High palate, Sparse eyebrow OMIM:619869
Menkes Disease
Hypopigmentation of hair, Malabsorption, Sparse hair, Woolly hair, Abnormal palate morphology ORPHA:565
Stuve-Wiedemann Syndrome 1
Pursed lips, Carious teeth, Thin vermilion border, Smooth tongue, Sparse hair OMIM:601559
Coffin-Lowry Syndrome
Highly arched eyebrow, Rectal prolapse, Thick lower lip vermilion, Dental malocclusion, Narrow pa... OMIM:303600
Autosomal Dominant Progressive External Ophthalmoplegia
Diabetes mellitus, Hyperthyroidism, Hypothyroidism, Goiter ORPHA:254892
Cockayne Syndrome B
Dry hair, Delayed eruption of primary teeth, Carious teeth, Abnormal hair morphology, Cryptorchid... OMIM:133540
Ablepharon-Macrostomia Syndrome
Absent eyebrow, Absent eyelashes, Anteriorly placed anus, Short upper lip, Wide mouth, Hypoplasti... OMIM:200110
Cartilage-Hair Hypoplasia
Aganglionic megacolon, Malabsorption, Sparse eyebrow, Gingival overgrowth, Sparse hair, Abnormal ... ORPHA:175
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Onycholysis, Nail dystrophy, Narr... OMIM:614748
Restrictive Dermopathy
Natal tooth, Short nail, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat glands, Submuco... ORPHA:1662
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Synophrys, Downturned corners of mouth, Sh... ORPHA:3455
Wrinkly Skin Syndrome
Delayed eruption of teeth, Short nail, Carious teeth, Cryptorchidism, Fragile nails, High palate,... OMIM:278250
Mucopolysaccharidosis Type 3
Thick hair, Malabsorption, Abnormality of the dentition, Synophrys, Macroglossia, Coarse hair, Th... ORPHA:581
Occipital Horn Syndrome
Hiatus hernia, Coarse hair, High palate, Long philtrum, Pili torti OMIM:304150
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Brittle hair OMIM:616084
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia, Delayed eruption of primary teeth OMIM:300952
Ogden Syndrome
Thin upper lip vermilion, Everted upper lip vermilion, Maternal diabetes, Abnormality of the dent... OMIM:300855
Noonan Syndrome 1
High, narrow palate, Cryptorchidism, Dental malocclusion, Cleft palate, Low posterior hairline, H... OMIM:163950
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Absent eyebrow, Alopecia, Thin fingernail, Aganglionic megacolon, Abnormal dental enamel morpholo... ORPHA:2273
Branchiooculofacial Syndrome
Supernumerary nipple, Abnormality of the dentition, Malrotation of colon, Cleft upper lip, Lower ... OMIM:113620
Neuroocular Syndrome
Brittle hair, Highly arched eyebrow, Short uvula, Submucous cleft hard palate, Synophrys, Downtur... OMIM:619539
Primrose Syndrome
Sparse scalp hair, Diabetes mellitus, Hypergonadotropic hypogonadism, Absent facial hair, Bilater... OMIM:259050
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Premature loss of primary teeth, Abnormality of hair texture ORPHA:667
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Biliary hyperplasia, Pyloric stenosis, Cryptorchidism, Cleft palate, Coarse hair, Narrow mouth, C... ORPHA:83617
Wrinkly Skin Syndrome
Delayed eruption of teeth, Carious teeth, Cryptorchidism, High palate, Small, conical teeth, Spar... ORPHA:2834
Lysinuric Protein Intolerance
Sparse hair, Fine hair OMIM:222700
Cockayne Syndrome
Dry hair, Diabetes mellitus, Abnormal dental morphology, Delayed eruption of primary teeth, Cario... ORPHA:191
Witteveen-Kolk Syndrome
Medial flaring of the eyebrow, Thin upper lip vermilion, Branchial fistula, Unilateral cryptorchi... OMIM:613406
Stüve-Wiedemann Syndrome
Hypothyroidism, Smooth tongue, Ectopic thyroid, Abnormality of the dentition ORPHA:3206
Igg4-Related Dacryoadenitis And Sialadenitis
Xerostomia, Enlarged lacrimal glands, Thyroiditis, Enlargement of parotid gland, Nodular goiter, ... ORPHA:79078
Mucolipidosis Type Ii
Dry hair, White hair, Gingival overgrowth, Fine hair ORPHA:576
Phace Association
Lingual thyroid, Congenital hypothyroidism OMIM:606519
Leprosy
Absent eyebrow, Alopecia, Testicular mass, Loss of eyelashes, Abnormality of the adrenal glands, ... ORPHA:548
Pallister-Hall Syndrome
Adrenal hypoplasia, Gonadotropin deficiency, Bifid uvula, Accessory oral frenulum, Precocious pub... ORPHA:672
Lipodystrophy, Familial Partial, Type 7
Sparse hair, Sparse scalp hair, Type I diabetes mellitus, Narrow mouth OMIM:606721
Occipital Horn Syndrome
Thick hair, Hiatus hernia, High, narrow palate, Coarse hair, Esophagitis, Long philtrum ORPHA:198
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Fine hair, Stillbirth, Short... OMIM:210710
Trichorhinophalangeal Syndrome, Type Ii
Chronic gastritis, Thin upper lip vermilion, Sparse scalp hair, Carious teeth, Bilateral cryptorc... OMIM:150230
Vascular Ehlers-Danlos Syndrome
Alopecia, Premature loss of primary teeth, Abnormality of the dentition, Carious teeth, High, nar... ORPHA:286
Cockayne Syndrome Type 3
Carious teeth, Premature graying of hair, Enamel hypoplasia, Dry hair ORPHA:90324
Phace Syndrome
Hypothyroidism, Ectopic thyroid ORPHA:42775
Pallister-Killian Syndrome
Tented upper lip vermilion, Anteriorly placed anus, Sparse hair, Bifid uvula, Alopecia, Sparse ey... OMIM:601803
Athyreosis
Thyroid agenesis, Macroglossia, Hypothyroidism ORPHA:95713
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Neonatal death, Brittle hair OMIM:124000
Liver Disease, Severe Congenital
Chronic gastritis, Dry hair, Biliary hyperplasia, Abnormal circulating thyroid hormone concentrat... OMIM:619991
Roberts-Sc Phocomelia Syndrome
Cleft upper lip, Cryptorchidism, Cleft palate, Stillbirth, High palate, Sparse hair OMIM:268300
Alström Syndrome
Abnormality of dental color, Decreased response to growth hormone stimulation test, Elevated circ... ORPHA:64

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 Foxe1

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 Foxe1.

No publications found that use IMPC mice or data for Foxe1.

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