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Gene: Hoxc13 MGI:99560

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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:
homeobox C13
Synonyms:
N

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 Hoxc13 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 Hoxc13 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ectodermal Dysplasia 9, Hair/Nail Type
Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair OMIM:614931

The table below shows human diseases predicted to be associated to Hoxc13 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Hypotrichosis 15
Sparse scalp hair OMIM:620177
Hypotrichosis 2
Sparse scalp hair OMIM:146520
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Hypotrichosis 1
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... OMIM:605389
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Hypotrichosis 10
Sparse eyebrow, Sparse eyelashes, Sparse body hair OMIM:614238
Striate Palmoplantar Keratoderma
Abnormal hair morphology, Palmoplantar keratoderma, Abnormality of the nail ORPHA:50942
Keratosis Palmoplantaris Striata Iii
Abnormal hair morphology, Palmoplantar keratoderma, Abnormality of the nail OMIM:607654
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Ringed Hair
Abnormal hair morphology OMIM:180600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... OMIM:158000
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi OMIM:617252
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Brittle hair, Follicular hyperkeratosis OMIM:618546
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Uncombable Hair Syndrome 2
Uncombable hair, Pili canaliculi OMIM:617251
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Follicular hyperkeratosis, Sparse hair, Pili torti OMIM:607903
Witkop Syndrome
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair OMIM:189500
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Hidrotic Ectodermal Dysplasia
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... ORPHA:189
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... ORPHA:2889
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair OMIM:234030
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Alopecia Areata 2
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis OMIM:610753
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia Universalis Congenita
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis OMIM:203655
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... OMIM:104100
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Hypertrichosis Lanuginosa Congenita
Congenital, generalized hypertrichosis, Double eyebrow OMIM:145700
Graham Little-Piccardi-Lassueur Syndrome
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair ORPHA:505
Ectodermal Dysplasia 9, Hair/Nail Type
Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair OMIM:614931
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Abnormal dental morphology, Hypoplastic toenails, Spars... ORPHA:2722
Angioma Serpiginosum, X-Linked
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair OMIM:300652
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Sparse hair, Reduced terminal:vellus ratio, Pili torti OMIM:601553
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Trichodental Dysplasia
Sparse hair, Brittle hair, Slow-growing hair, Fine hair OMIM:601453
Alopecia Universalis
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis ORPHA:701
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Bjornstad Syndrome
Anhidrosis, Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular int... OMIM:262000
Pili Torti, Early-Onset
Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr... OMIM:261900
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Fine hair, Hyperkeratosis, Pili torti ORPHA:1573
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... ORPHA:2891
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... OMIM:614929
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... ORPHA:1808
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hypohidrosis, Hyperk... OMIM:602400
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Abnormality of the... OMIM:129500
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Sparse eyelashes, Abnormality of the philtrum, Abnormality of hair texture, Sparse ... OMIM:225060
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Cleft lip, Cleft palate, Nail dystrophy... ORPHA:2890
Hypertrichosis, Congenital Generalized
Congenital, generalized hypertrichosis, Hirsutism OMIM:307150
Erythrokeratodermia Variabilis Et Progressiva 5
Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis OMIM:617756
Ectodermal Dysplasia 8, Hair/Tooth/Nail Type
Sparse scalp hair, Irregular dentition, Macrodontia, Agenesis of permanent teeth, Aplasia/Hypopla... OMIM:602401
Ectodermal Dysplasia 13, Hair/Tooth Type
Brittle hair, Sparse eyelashes, Low anterior hairline, Oligodontia, Thick vermilion border, Thin ... OMIM:617392
Parc Syndrome
Absent eyelashes, Absent eyebrow, Alopecia, Cleft palate OMIM:600331
Alopecia Areata 1
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis OMIM:104000
Carvajal Syndrome
Woolly hair, Patchy palmoplantar hyperkeratosis ORPHA:65282
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail OMIM:617294
Aredyld
Generalized hypotrichosis OMIM:207780
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Ectodermal Dysplasia 5, Hair/Nail Type
Sparse scalp hair, Dystrophic fingernails, Absent toenail OMIM:614927
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair, Palmoplantar keratoderma OMIM:610476
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Anhidrosis, Dystrophic toenail, Palmoplantar hyperkeratosis OMIM:619209
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses
Sparse eyebrow, Sparse scalp hair, Absent eyebrow, Sparse eyelashes OMIM:620199
Hypotrichosis 14
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair OMIM:618275
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Abnormality of the dentition, Abnormal eyelash morphology, Gingivitis, Periodo... ORPHA:1008
Woolly Hair, Autosomal Dominant
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Palmoplant... OMIM:194300
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Sparse hair, Hyperkeratosis, Coarse hair, Brittle hair ORPHA:1883
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Wooll... OMIM:616099
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Tongue, Pigmented Fungiform Papillae Of
Abnormality of the tongue OMIM:275250
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Epicanthus, Alopecia, Brittle hair, Upslanted palpebral fissure, High palate, Failure to thrive ORPHA:50812
Candidiasis, Familial, 1
Alopecia, Premature loss of teeth OMIM:114580
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair OMIM:617073
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies
Thin upper lip vermilion, Hirsutism, Upslanted palpebral fissure, Long eyelashes, Horizontal eyeb... OMIM:618608
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Progeroid Syndrome, Petty Type
Epicanthus, Brittle hair, Abnormal hair morphology, Tooth agenesis, Everted lower lip vermilion, ... ORPHA:2963
Brachycephaly, Trichomegaly, And Developmental Delay
Epicanthus, Brittle hair, Highly arched eyebrow, Synophrys, Supernumerary tooth, Submucous cleft ... OMIM:617412
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri... OMIM:117850
Thumb Deformity And Alopecia
Solitary median maxillary central incisor, Alopecia OMIM:188150
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Hypohidrosis, Abno... ORPHA:248
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Peeling Skin Syndrome 1
Palmoplantar hyperhidrosis, Brittle hair, Onycholysis, Nail dystrophy OMIM:270300
Oligodontia-Colorectal Cancer Syndrome
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Adenomatous colonic polyposis, Oligodont... OMIM:608615
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Anhidrosis, Brittle hair, Absent nipple, Hypohidrosis, Sparse hair, Absent hair OMIM:614940
Trichohepatoenteric Syndrome 2
Villous atrophy, Brittle hair, Small for gestational age, Uncombable hair, Colitis, Sparse hair, ... OMIM:614602
Trichothiodystrophy 4, Nonphotosensitive
Epicanthus, Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Hypoplasia... OMIM:234050
Hypotrichosis 12
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... OMIM:615885
Naxos Disease
Sparse scalp hair, Curly hair, Abnormality of hair texture, Hyperhidrosis, Palmoplantar keratoder... ORPHA:34217
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Hypotrichosis 5
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Abnormality of the dentition, Absent... OMIM:612841
Keratosis Follicularis, Dwarfism, And Cerebral Atrophy
Absent eyelashes, Absent eyebrow, Absent hair OMIM:308830
Ectodermal Dysplasia, Trichoodontoonychial Type
Abnormal dental morphology, Abnormal eyelash morphology, Hypodontia, Sparse hair, Abnormal toenai... ORPHA:1818
Trichodermodysplasia-Dental Alterations Syndrome
Delayed eruption of teeth, Sparse scalp hair, Brittle hair, Abnormal dental morphology, Hyperlord... ORPHA:3353
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Hypohidrosis, Sparse... OMIM:129490
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Abnormal fingernail morphology, Abnormal dental morphology, Abnormalit... ORPHA:2228
Zimmermann-Laband Syndrome 3
Thick hair, Kyphosis, Synophrys, Thick lower lip vermilion, Low anterior hairline, Gingival overg... OMIM:618658
Trichothiodystrophy 6, Nonphotosensitive
Tiger tail banding, Brittle hair, Slow-growing hair OMIM:616943
Coffin-Siris Syndrome 8
Sparse scalp hair, Thin upper lip vermilion, Ptosis, Thick lower lip vermilion, Long eyelashes, S... OMIM:618362
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Absent facial hair, Abnormality of... ORPHA:90368
Alazami-Yuan Syndrome
Thin upper lip vermilion, Thick eyebrow, Dental crowding, Highly arched eyebrow, Synophrys, Low a... OMIM:617126
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Brittle hair, Upslanted palpebral fissure, Coarse hair, Everted lower lip vermilion, Na... ORPHA:75389
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Nail pits, Congenital alopecia totalis ORPHA:169095
Zimmermann-Laband Syndrome 2
Thick eyebrow, Short neck, Kyphosis, Synophrys, Widow's peak, Deep philtrum, Gingival overgrowth,... OMIM:616455
L-Ferritin Deficiency
Alopecia OMIM:615604
Olmsted Syndrome 2
Parakeratosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar... OMIM:619208
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Pierre-Robin sequence, Hyperconvex nail, Cleft palate OMIM:311895
Axin2-Related Attenuated Familial Adenomatous Polyposis
Sparse hair ORPHA:401911
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Conical tooth, Hypoplastic toe... OMIM:613573
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fragile nails, Fine hair ORPHA:500166
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Tongue atrophy, Poliosis, Kyphosis, Dental malocclusion, Horner syndro... OMIM:141300
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Sparse eyebrow, Wide mouth, Reduced hair sulfur content, Widely ... OMIM:300953
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:261800
Jaberi-Elahi Syndrome
Brittle hair, Sparse eyelashes, Sparse eyebrow, Kyphosis, Fine hair, Scoliosis, Sparse hair, Tria... OMIM:617988
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Brittle hair, Carious teeth, Posterior wedging of vertebral bodies, Hy... ORPHA:50814
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Delayed eruption of teeth, Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Abnormal ... ORPHA:2325
Melkersson-Rosenthal Syndrome
Furrowed tongue OMIM:155900
Tooth Agenesis, Selective, 4
Sparse scalp hair, Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Too... OMIM:150400
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Small for gestational age, Abnormality of the dentition, Long eyelashes, Sparse hair ORPHA:3363
Cutis Laxa, Autosomal Recessive, Type Iia
Brittle hair, Abnormality of hair texture, Carious teeth, Coarse hair, High palate, Scoliosis, Na... OMIM:219200
Onychotrichodysplasia And Neutropenia
Curly hair, Chronic irritative conjunctivitis, Curly eyelashes, Concave nail, Sparse pubic hair, ... OMIM:258360
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Hypohidrosis, Dystrophic fingernails, Dys... ORPHA:1882
Oliver-Mcfarlane Syndrome
Alopecia, Small for gestational age, Long eyebrows, Long eyelashes, Sparse hair OMIM:275400
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha... OMIM:613102
Porphyria, Congenital Erythropoietic
Absent eyebrow, Alopecia, Erythrodontia, Loss of eyelashes, Conjunctivitis, Vertebral compression... OMIM:263700
Netherton Syndrome
Sparse scalp hair, Parakeratosis, Brittle hair, Brittle scalp hair, Sparse eyebrow OMIM:256500
Trichothiodystrophy 3, Photosensitive
Natal tooth, Failure to thrive, Brittle hair, Carious teeth, Pyloric stenosis, Eclabion, Tiger ta... OMIM:616395
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Atopic Keratoconjunctivitis
Abnormal eyelid morphology, Loss of eyelashes, Keratoconjunctivitis sicca, Chemosis, Blepharitis ORPHA:163934
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Fine hair ORPHA:1174
Focal Facial Dermal Dysplasia 1, Brauer Type
Distichiasis, Sparse lateral eyebrow OMIM:136500
Griscelli Syndrome, Type 1
White eyelashes, White eyebrow, Silver-gray hair, Large clumps of pigment irregularly distributed... OMIM:214450
Focal Facial Dermal Dysplasia 3, Setleis Type
Epicanthus, Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis, Thick upper... OMIM:227260
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Epicanthus, Dry hair, Brittle hair, Upslanted palpebral fissure, Macroglossia, Nail dystrophy ORPHA:93947
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Alopecia, Nail dystrophy, Nail pits OMIM:601705
Kerion Celsi
Alopecia ORPHA:499
Cronkhite-Canada Syndrome
Intestinal polyposis, Alopecia, Abnormal fingernail morphology, Cachexia, Malabsorption, Hypoplas... ORPHA:2930
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelid morphology, Fine hair, Wei... ORPHA:2221
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta, Alopecia of scalp, Trichodysplasia ORPHA:79129
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Abnormal dental morphology, Everted lower lip vermilion, Fingernail dysplasia, Sparse h... ORPHA:2251
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Low anterior hairline, Downturned corners of mouth, Sparse hair, Distichiasis, ... ORPHA:79133
Nicolaides-Baraitser Syndrome
Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, High, narrow palate, Ble... ORPHA:3051
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Brittle hair, Trichoschisis, Small for gestational age, Malabsorption, Tr... OMIM:601675
Moynahan Syndrome
Sparse hair, Alopecia, Cachexia ORPHA:2574
Choroidal Atrophy-Alopecia Syndrome
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... ORPHA:1433
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Nail dystrophy OMIM:616487
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Decreased body weight, Sparse hair, F... ORPHA:2985
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail OMIM:302000
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Brittle hair, Dental crowding, Kyphoscoliosis, High palate, Scoliosis, Biconcave vertebral bodies... OMIM:236200
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Loss of eyelashes ORPHA:2821
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... ORPHA:113
Fibrodysplasia Ossificans Progressiva
Alopecia, Failure to thrive, Abnormal vertebral morphology, Spinal rigidity ORPHA:337
Trichothiodystrophy 9, Nonphotosensitive
Sparse eyebrow, Tiger tail banding, Sparse hair, Nail dystrophy OMIM:619692
Keratosis Follicularis-Dwarfism-Cerebral Atrophy Syndrome
Absent eyelashes, Absent eyebrow ORPHA:2339
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Woolly hair, Palmoplantar keratoderma OMIM:611528
Chand Syndrome
Curly hair, Nail dysplasia OMIM:214350
Proliferating Trichilemmal Cyst
Sparse scalp hair ORPHA:492
Cardiofaciocutaneous Syndrome
Epicanthus, Brittle hair, Slow-growing hair, Failure to thrive in infancy, Short neck, Abnormal e... ORPHA:1340
Menkes Disease
Sparse hair, Alopecia, Brittle hair OMIM:309400
Hawkinsinuria
Sparse hair, Fine hair ORPHA:2118
Pseudopelade Of Brocq
Sparse scalp hair, Alopecia, Abnormal hair morphology, Cheilitis, Abnormality of the nail, Aplasi... ORPHA:129
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Oral mucosal blisters, Abnormality of the dentition, Nail dystrophy, Nail dysplasia ORPHA:79397
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Sparse hair, Widow's peak, Thick eyebrow OMIM:606242
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Everted upper lip vermilion, Brittle hair, Absent nipple, Sparse eyelashes, Abnor... OMIM:305100
Catel-Manzke Syndrome
Highly arched eyebrow, Cleft palate, Glossoptosis, Scoliosis, Failure to thrive, Oral synechia ORPHA:1388
Trichothiodystrophy 2, Photosensitive
Coarse hair, Tiger tail banding OMIM:616390
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Sparse eyebrow, Brittle hair, Neonatal death, Narrow mouth OMIM:618810
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Generalized hypoplasia of dental enamel, Alopecia, Thoracic kyphoscoliosis, Telecanthus, Carious ... OMIM:203550
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Woolly hair... OMIM:615821
Tristichiasis
Three rows of eyelashes OMIM:190800
Distichiasis
Distichiasis OMIM:126300
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
Flynn-Aird Syndrome
Carious teeth, Alopecia, Alopecia of scalp, Kyphoscoliosis OMIM:136300
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Thin upper lip vermilion, Brittle hair, Carious teeth, Posterior wedgi... OMIM:607812
Alopecia Antibody Deficiency
Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair ORPHA:1006
Hutchinson-Gilford Progeria Syndrome
Delayed eruption of teeth, Absent eyebrow, Dental crowding, Alopecia totalis, Short lingual frenu... ORPHA:740
Hypotrichosis 3
Abnormal eyelash morphology, Sparse scalp hair, Abnormality of the nail, Abnormal sweat gland mor... OMIM:613981
Pachyonychia Congenita 2
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Sparse eyebrow, Palmoplantar hyperkeratosi... OMIM:167210
Epidermolysis Bullosa, Junctional 1A, Intermediate
Oral mucosal blisters, Carious teeth, Patchy alopecia, Nail dystrophy, Hypodontia, Enamel hypopla... OMIM:226650
Trichomegaly
Long eyelashes OMIM:190330
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Carious teeth, Conjunctiv... OMIM:612843
Schöpf-Schulz-Passarge Syndrome
Alopecia, Premature loss of primary teeth, Hypodontia, Sparse hair, Aplasia/Hypoplasia of the eye... ORPHA:50944
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Alopecia, Abnormal intervertebral disk morphology, Abnormally ossified vertebrae, Short neck, Los... ORPHA:2636
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse body hair OMIM:618535
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Telecanthus, Cachexia, Short neck, Sparse ey... ORPHA:884
Focal Facial Dermal Dysplasia Type Iii
Epicanthus, Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyebrow, Abnormal sacroi... ORPHA:1807
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia, Everted lower lip vermilion, Ectropion OMIM:242510
Cornelia De Lange Syndrome 2
Smooth philtrum, Thin upper lip vermilion, Thick eyebrow, Highly arched eyebrow, Short neck, Syno... OMIM:300590
Schopf-Schulz-Passarge Syndrome
Ridged nail, Narrow nail, Thin nail, Poroma, Onycholysis, Nail dystrophy, Small nail, Sparse hair... OMIM:224750
Hypomelanosis Of Ito
Epicanthus, Alopecia, Kyphosis, Thick lower lip vermilion, Irregularly spaced teeth, Scoliosis OMIM:300337
Cardiofaciocutaneous Syndrome 2
Sparse hair, Curly hair, Absent eyebrow, Fine hair OMIM:615278
Rhizomelic Chondrodysplasia Punctata, Type 1
Alopecia, Kyphoscoliosis, Cleft palate, Upslanted palpebral fissure, Coronal cleft vertebrae, Sev... OMIM:215100
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... ORPHA:1809
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Brittle hair, Dental crowding, Hypoplasia of teeth, High palate, Narrow mouth, Sparse h... OMIM:608612
Hepatoerythropoietic Porphyria
Erythrodontia, Scarring alopecia of scalp, Loss of eyelashes, Keratoconjunctivitis, Seborrhoeic b... ORPHA:95159
Developmental And Epileptic Encephalopathy 23
Double eyebrow, Telecanthus, Synophrys, Low anterior hairline, Long eyelashes, Short philtrum, Th... OMIM:615859
Epidermolysis Bullosa, Junctional 5A, Intermediate
Premature loss of permanent teeth, Absent pubic hair, Nail dystrophy, Absent axillary hair, Onych... OMIM:619816
Blepharo-Cheilo-Odontic Syndrome
Abnormal hair quantity, Conical tooth, Carious teeth, Abnormal eyelid morphology, Ectropion of lo... ORPHA:1997
Acrodermatitis Enteropathica
Ridged nail, Abnormal eyebrow morphology, Alopecia, Malabsorption, Abnormal eyelid morphology, Pa... ORPHA:37
Orofaciodigital Syndrome Type 1
Brittle hair, Lobulated tongue, Coarse hair, High palate, Sparse hair, Alopecia, Abnormal dental ... ORPHA:2750
Cortisone Reductase Deficiency 1
Alopecia, Obesity, Hirsutism OMIM:604931
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hypohidrosis, Hyperkeratosis, On... ORPHA:1028
Oculodentodigital Dysplasia
Curly hair, Epicanthus, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, Abnormal... ORPHA:2710
Rothmund-Thomson Syndrome, Type 1
Absent eyebrow, Thin nail, Conical tooth, Absent eyelashes, Nail dystrophy, Sparse hair OMIM:618625
Ectodermal Dysplasia/Skin Fragility Syndrome
Absent eyebrow, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dystrophic fing... OMIM:604536
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Alopecia, Abnormal dental morphology, Abnormal dental enamel morphology, Highly arched eyebrow, C... ORPHA:3253
Coffin-Siris Syndrome 3
Sparse scalp hair, Ptosis, Hirsutism, Cleft palate, Wide mouth, Macroglossia, Delayed eruption of... OMIM:614608
Blepharocheilodontic Syndrome 1
Conical tooth, Cleft upper lip, Lagophthalmos, Ectropion of lower eyelids, Euryblepharon, Hypodon... OMIM:119580
Renpenning Syndrome
Abnormal hairshaft morphology, Alopecia, Epicanthus, Macrodontia, Cachexia, High, narrow palate, ... ORPHA:3242
Amaurosis-Hypertrichosis Syndrome
Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow ORPHA:1021
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Cleft palate, Weight loss ORPHA:141152
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Curly hair, Curly eyelashes, Short neck, Multiple rows of eyelashes, Narrow philtrum, Thick lower... ORPHA:163654
Vulto-Van Silfhout-De Vries Syndrome
Epicanthus, Tented upper lip vermilion, Sacral dimple, Widow's peak, Thick lower lip vermilion, F... OMIM:615828
Bazex-Dupre-Christol Syndrome
Hypohidrosis, Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa OMIM:301845
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy
Anterior cervical hypertrichosis OMIM:239840
Mcdonough Syndrome
Cachexia, Open bite, Kyphosis, Synophrys, Dental malocclusion, Short philtrum, Scoliosis, Short p... ORPHA:2471
Rhizomelic Chondrodysplasia Punctata
Epicanthus, Alopecia, Abnormality of the dentition, Scoliosis, Spina bifida occulta, Sparse body ... ORPHA:177
Hereditary Mucoepithelial Dysplasia
Alopecia, Tracheoesophageal fistula, Gingival overgrowth, Fine hair, Furrowed tongue, Sparse hair ORPHA:1839
Coffin-Siris Syndrome 5
Sparse scalp hair, Thick eyebrow, Thin upper lip vermilion, Hypoplastic toenails, Thick lower lip... OMIM:616938
Odontoonychodermal Dysplasia
Ridged nail, Sparse scalp hair, Dry hair, Plantar hyperkeratosis, Thin nail, Short nail, Sparse e... OMIM:257980
Faciocardiomelic Syndrome
Telecanthus, Large for gestational age, Cuboid-shaped vertebral bodies, Dental malocclusion, Wide... OMIM:612731
Hypertrichosis Cubiti
Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash morphology,... ORPHA:2220
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dysplasia, Scoliosis OMIM:615704
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Sparse scalp hair, Sparse eyelashes, Selective tooth agenesis, Sparse eyebrow, Widely spaced teet... OMIM:225280
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Carious teeth, Nail dystrophy, Sparse hair, Premature loss of teeth, Failure to thrive,... OMIM:616353
Acrofacial Dysostosis, Palagonia Type
Sparse eyelashes, Abnormal eyelid morphology, Short neck, High, narrow palate, Supernumerary toot... ORPHA:1787
Blepharocheilodontic Syndrome 2
Conical tooth, Lagophthalmos, Cleft lip, Ectropion of lower eyelids, Tooth agenesis, Euryblepharo... OMIM:617681
Rapp-Hodgkin Syndrome
Conical tooth, Sparse hair, Microdontia, Bifid uvula, Cleft upper lip, Sparse eyebrow, Small nail... OMIM:129400
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Scoliosis, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:2850
Trichohepatoenteric Syndrome 1
Curly hair, Villous atrophy, Brittle hair, Small for gestational age, Fine hair, Wide mouth, Narr... OMIM:222470
Marshall-Smith Syndrome
Irregular dentition, Thoracic scoliosis, Brittle hair, Synophrys, Anteriorly placed anus, Glossop... OMIM:602535
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Thin upper lip vermilion, Small for gestational age, Fine hair, Downturned corners of mouth, Upsl... ORPHA:231137
Hall-Riggs Syndrome
Delayed eruption of teeth, Epicanthus, Slow-growing hair, Abnormal dental enamel morphology, Thic... ORPHA:2107
Craniodigital-Intellectual Disability Syndrome
Thick hair, Abnormal hair pattern, Long eyelashes, Spina bifida occulta, Generalized hirsutism, T... ORPHA:1514
Acromicric Dysplasia
Ovoid vertebral bodies, Narrow mouth, Deep philtrum, Thick lower lip vermilion, Long eyelashes, L... OMIM:102370
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Thin upper lip vermilion, Everted upper lip vermilion, Thick hair, Synophrys, Deep philtrum, Pier... OMIM:618381
Cornelia De Lange Syndrome 5
Telecanthus, Highly arched eyebrow, Short neck, Synophrys, Low anterior hairline, Cleft palate, D... OMIM:300882
Porphyria Cutanea Tarda
Facial hypertrichosis, Alopecia, Onycholysis OMIM:176100
Syndromic X-Linked Intellectual Disability 7
Sparse body hair ORPHA:85274
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Thin upper lip vermilion, Epicanthus, Synophrys, Prominent protruding coccyx, Obesity, High palat... ORPHA:480907
Coffin-Siris Syndrome 2
Delayed eruption of teeth, Sparse scalp hair, Thick eyebrow, Absent fifth fingernail, Ptosis, Thi... OMIM:614607
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia ORPHA:346
Lelis Syndrome
Yellow nails, Carious teeth, Absent lower eyelashes, Furrowed tongue, Upslanted palpebral fissure... ORPHA:140936
Rombo Syndrome
Abnormal eyelash morphology, Abnormal eyebrow morphology OMIM:180730
Erythrokeratodermia Variabilis
Alopecia, Abnormal hair morphology, Weight loss, Abnormality of the nail, Generalized hirsutism ORPHA:317
Rapadilino Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, High, narrow palate, Cleft palate, Narrow pa... OMIM:266280
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Palpebral edema, Abnormal sweat gland morphology, Ab... OMIM:607823
Congenital Erythropoietic Porphyria
Erythrodontia, Scarring alopecia of scalp, Loss of eyelashes, Keratoconjunctivitis, Seborrhoeic b... ORPHA:79277
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia, Yellow nails, Carious teeth, Conical incisor, Onycholysis, Nail dystrophy,... OMIM:614564
Mucolipidosis Ii Alpha/Beta
Epicanthus, Brittle hair, Palpebral edema, Failure to thrive, Thoracolumbar kyphoscoliosis, Ovoid... OMIM:252500
Mandibulofacial Dysostosis With Alopecia
Alopecia, Sparse eyelashes, Dental crowding, Delayed eruption of primary teeth, Lower eyelid colo... OMIM:616367
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse scalp hair, Sparse eyelashes, Abnormal dental enamel morphology, Sparse eyebrow, Scarring ... ORPHA:59303
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Anonychia, Nail dystrophy, Sparse body hair ORPHA:79402
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, High palate, Scoliosis, Long philtrum, Distichiasis ORPHA:2598
Leprosy
Absent eyebrow, Alopecia, Loss of eyelashes, Paralytic lagophthalmos, Sparse body hair ORPHA:548
Copper Deficiency, Familial Benign
Curly hair, Early balding OMIM:121270
Keratoderma Hereditarium Mutilans
Alopecia, Abnormality of the nail, Cleft palate, Abnormal toenail morphology ORPHA:494
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dystrophy, Alopecia totalis, Nail dysplasia OMIM:212360
Kury-Isidor Syndrome
Ptosis, Alopecia, Tented upper lip vermilion, Sacral dimple, Short neck, High palate, Widely spac... OMIM:619762
Rubinstein-Taybi Syndrome 2
Epicanthus, Intestinal malrotation, Highly arched eyebrow, Carious teeth, Talon cusp, Hirsutism, ... OMIM:613684
Trichothiodystrophy
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Ectropion, Epicanthus, Concave nail, Ca... ORPHA:33364
Robin Sequence-Oligodactyly Syndrome
Abnormal form of the vertebral bodies, Glossoptosis, Cleft palate, Abnormality of the dentition ORPHA:3104
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Carious teeth, Cleft palate, Everted lower lip vermil... ORPHA:2316
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Brittle hair, Small for gestational age, Failure to thrive in infancy, Submucous cleft hard palat... OMIM:618891
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Everted lower lip vermilion, Nail dystrophy, Nail dysplasia, Sparse hair, Ectropion OMIM:242300
Acromicric Dysplasia
Abnormal eyebrow morphology, Ovoid vertebral bodies, Narrow mouth, Thick lower lip vermilion, Lon... ORPHA:969
Wiedemann-Steiner Syndrome
Elbow hypertrichosis, Synophrys, High palate, Generalized hirsutism, Brow ptosis, Exaggerated cup... OMIM:605130
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Tented upper lip vermilion, Aganglionic... ORPHA:894
Whistling Face Syndrome, Recessive Form
Epicanthus, Telecanthus, Kyphoscoliosis, Short neck, Whistling appearance, Narrow mouth, High pal... OMIM:277720
Flynn-Aird Syndrome
Alopecia, Cachexia, Carious teeth, Kyphosis, Scoliosis ORPHA:2047
Congenital Short Bowel Syndrome
Sparse hair ORPHA:2301
Monosomy 18P
Alopecia, Epicanthus, Kyphoscoliosis, Short neck, Carious teeth, Cleft palate, Low posterior hair... ORPHA:1598
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Epicanthus, Alopecia, Accessory oral frenulum, Hypoplasia of teeth, Scoliosis ORPHA:88630
Odontotrichoungual-Digital-Palmar Syndrome
Nail dystrophy, Nail dysplasia, Abnormality of hair texture OMIM:601957
Cantu Syndrome
Epicanthus, Ovoid vertebral bodies, Curly eyelashes, Large for gestational age, Short neck, Thick... OMIM:239850
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Sparse eyebrow, Tooth agenesis, Nail dystrophy, Woolly hair, Failure ... OMIM:605676
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, White eyelashes, White eyebrow, Aganglioni... ORPHA:897
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Curly hair, Thin upper lip vermilion, Tented upper lip vermilion, Epicanthus, Kyphoscoliosis, Spa... OMIM:620075
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Short neck, Narrow mouth, Synophrys, Obesity, Narrow palate, Fine hair, Hypoplasia of teeth, Wide... OMIM:620250
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Epicanthus, Small for gestational age, Kyphoscoliosis, Hyperlordosis, Increased vertebral height,... OMIM:616817
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Cachexia, Malabsorption, Xerostomia, Hamartomatous polyposis, Protein-losing enteropath... OMIM:175500
Fanconi Anemia, Complementation Group S
Epicanthus, Macrodontia, Blepharophimosis, Low anterior hairline, Dental malocclusion, Narrow pal... OMIM:617883
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair, Ptosis ORPHA:1067
Zimmermann-Laband Syndrome
Telecanthus, Short neck, Supernumerary tooth, Gingival fibromatosis, Cleft palate, Anterior open-... ORPHA:3473
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis, Curly hair, Hyperhidrosis OMIM:615279
Pachyonychia Congenita
Natal tooth, Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toenails, Fingernail dysp... ORPHA:2309
Microtriplication 11Q24.1
Thick eyebrow, Short neck, Synophrys, Obesity, Cleft palate, Irregularly spaced teeth, Upslanted ... ORPHA:289522
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Everted upper lip vermilion, Sparse eyelashes, Conical tooth, Sparse eyebrow, Oligodontia, Thick ... OMIM:224900
Distal Duplication 6P
Abnormal hair quantity, Sacral dimple, Short neck, Abnormal eyelash morphology, Fine hair, Thin v... ORPHA:1745
Temple-Baraitser Syndrome
Tented upper lip vermilion, Hypoplastic thumbnail, Low anterior hairline, High palate, High anter... ORPHA:420561
Oculocerebrocutaneous Syndrome
Alopecia, Orbital cyst, Cleft palate, Eyelid coloboma OMIM:164180
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Carious teeth, Alopecia, Hypodontia, Kyphoscoliosis OMIM:612079
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Alopecia, Abnormal fingernail morphology, Abnormal oral mucosa morphology, Abnormality of the den... ORPHA:659
Spastic Paraplegia With Neuropathy And Poikiloderma
Absent eyelashes, Absent eyebrow OMIM:182815
Craniofrontonasal Dysplasia
Abnormality of hair texture, Abnormality of the dentition, Widow's peak, Orofacial cleft, Low pos... ORPHA:1520
Blepharonasofacial Malformation Syndrome
Epicanthus, Telecanthus, Abnormal eyelash morphology, Non-midline cleft lip, Cleft palate, Low po... ORPHA:1252
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Selective tooth agenesis, Absent eyelas... OMIM:106260
2Q32Q33 Microdeletion Syndrome
Dental crowding, Cleft palate, Fine hair, Oligodontia, Thin vermilion border, High palate, Narrow... ORPHA:251019
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Low anterior hairline, Hirsutism, Upper eyelid edema, Long eyelashes, Everted lower lip vermilion... OMIM:616819
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Epicanthus, Alopecia, Supernumerary nipple, Abnormality of the dentition, Truncal obesity, Abnorm... ORPHA:3224
Lichen Planopilaris
Alopecia, Abnormal fingernail morphology, Onycholysis, Abnormal intestine morphology, Pterygium, ... ORPHA:525
Fg Syndrome 3
Sparse hair, Frontal upsweep of hair, Fine hair OMIM:300406
Dermoodontodysplasia
Sparse scalp hair, Fingernail dysplasia, Trichodysplasia, Toenail dysplasia, Sparse body hair ORPHA:1660
Neuroocular Syndrome
Brittle hair, Synophrys, Downturned corners of mouth, Widely spaced teeth, Torus palatinus, Hoode... OMIM:619539
Cataract-Intellectual Disability-Hypogonadism Syndrome
Hyperlordosis, Tooth malposition, Low posterior hairline, Furrowed tongue, High palate, Short phi... ORPHA:1387
4Q21 Microdeletion Syndrome
Abnormality of the dentition, Short neck, Kyphosis, Synophrys, Downturned corners of mouth, Thin ... ORPHA:238750
Argininosuccinic Aciduria
Dry hair, Brittle hair, Trichorrhexis nodosa OMIM:207900
Waardenburg Syndrome, Type 4B
White eyelashes, Aganglionic megacolon, White eyebrow, Premature graying of hair, White forelock OMIM:613265
Blepharophimosis-Impaired Intellectual Development Syndrome
Synophrys, Low anterior hairline, Short philtrum, Widely spaced teeth, Microdontia, Exaggerated c... OMIM:619293
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Alopecia, Malabsorption ORPHA:100025
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Sparse scalp hair, Natal tooth, Sparse eyelashes, Sparse eyebrow, Hypoplastic sweat glands, Oligo... OMIM:601345
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse hair, Abnormal fingernail morphology, Sparse body hair ORPHA:1810
Braddock-Carey Syndrome 1
Curly hair, Telecanthus, Hyperlordosis, Pierre-Robin sequence, Cleft palate, Anteriorly placed an... OMIM:619980
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkera... OMIM:300918
Proximal 16P11.2 Microduplication Syndrome
Thin upper lip vermilion, Sparse eyelashes, Abnormality of the hairline, Sparse eyebrow, Hemivert... ORPHA:370079
Cutis Laxa, Autosomal Recessive, Type Iie
Lumbar hyperlordosis, Ovoid vertebral bodies, Highly arched eyebrow, Thick lower lip vermilion, H... OMIM:619451
Weaver Syndrome
Deep-set nails, Abnormal fingernail morphology, Thin nail, Hypoplastic toenails, Deep philtrum, F... ORPHA:3447
Non-Distal Duplication 13Q
Abnormal fingernail morphology, Abnormality of the dentition, Hypoplastic toenails, Abnormal eyel... ORPHA:1702
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Abnormality of dental color, Sparse axillary hair, Sparse pubic hair, Scarrin... ORPHA:251393
Intellectual Developmental Disorder, Autosomal Dominant 34
Curly hair, Epicanthus, Bilateral ptosis, Synophrys, Upslanted palpebral fissure, Coarse hair, Wi... OMIM:616351
Orofacial Cleft 15
Agenesis of lateral incisor, Bilateral cleft palate, Epicanthus, Sparse eyelashes, Bilateral clef... OMIM:616788
Bartsocas-Papas Syndrome
Median cleft lip, Alopecia totalis, Hypoplastic toenails, Cleft palate, Ankyloblepharon, Sparse o... ORPHA:1234
Intellectual Developmental Disorder, Autosomal Recessive 61
Thick hair, Highly arched eyebrow, Conical tooth, Synophrys, Long eyelashes, High palate, Scolios... OMIM:617773
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Thin upper lip vermilion, Epicanthus, Small for gestational age, Kyphoscoliosis, Short neck, Syno... ORPHA:391408
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome
Palpebral edema, Highly arched eyebrow, Thick lower lip vermilion, Low anterior hairline, Hirsuti... ORPHA:466688
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Epicanthus, Abnormal dental enamel morphology, Fine hair, Blepharophimosis, Abnormal palate morph... ORPHA:3236
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyelash morphology, Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic m... ORPHA:2885
Deafness-Craniofacial Syndrome
Short lingual frenulum, Abnormality of the dentition, Abnormal palate morphology, Upslanted palpe... ORPHA:3241
Burning Mouth Syndrome
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... ORPHA:353253
Pulmonary Blastoma
Weight loss ORPHA:64741
Heyn-Sproul-Jackson Syndrome
Sparse hair OMIM:618724
Radio-Tartaglia Syndrome
Dental crowding, High, narrow palate, Synophrys, Low anterior hairline, High palate, Short philtr... OMIM:619312
Nabais Sa-De Vries Syndrome, Type 1
Epicanthus, Telecanthus, Sacral dimple, Highly arched eyebrow, Synophrys, Low anterior hairline, ... OMIM:618828
Bresek Syndrome
Alopecia, Aganglionic megacolon, Hemivertebrae, Cleft palate, Scoliosis, Neonatal death ORPHA:85284
X-Linked Hypohidrotic Ectodermal Dysplasia
Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:181
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Telecanthus, Abnormal spaced incisors, Synophrys, Low anterior hairline, Long eyelashes, Short ph... ORPHA:411986
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Macs Syndrome
Eclabion, Irregular dentition, Alopecia, Epicanthus, Palpebral edema, Sparse eyebrow, Gingival ov... OMIM:613075
Man1B1-Cdg
Thin upper lip vermilion, Epicanthus, Long eyebrows, Short neck, Sparse eyebrow, Abnormal positio... ORPHA:397941
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Sparse scalp hair, Fine hair ORPHA:2324
Abcd Syndrome
White eyelashes, Aganglionic megacolon, White eyebrow, Albinism, Large for gestational age, Total... OMIM:600501
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Woolly hair OMIM:607450
Intellectual Developmental Disorder, Autosomal Dominant 21
Epicanthus, Sacral dimple, Cleft palate, Thin vermilion border, Long eyelashes, Narrow mouth, Inc... OMIM:615502
Intestinal Dysmotility Syndrome
Failure to thrive, High palate, Broad philtrum, Weight loss OMIM:620045
2Q23.1 Microduplication Syndrome
Thin upper lip vermilion, Dental crowding, Highly arched eyebrow, Abnormality of the dentition, B... ORPHA:313947
Congenital Ichthyosiform Erythroderma
Alopecia, Failure to thrive, Abnormality of the nail, Ectropion ORPHA:79394
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Telecanthus, Abnormality of the dentition, Conical tooth, Fine hair, Upslanted palpebra... ORPHA:228390
Giant Axonal Neuropathy
Facial palsy, Woolly hair, Limb muscle weakness, Abnormality of the Achilles tendon, Pili canaliculi ORPHA:643
Trichothiodystrophy 8, Nonphotosensitive
Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa OMIM:619691
Lessel-Kubisch Syndrome
Sparse pubic hair, Premature graying of hair OMIM:618681
Noonan Syndrome 5
Curly hair, Epicanthus, Large for gestational age, Sparse eyebrow, Short neck, Fine hair, Wide mo... OMIM:611553
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
Synophrys, Orofacial cleft, Wide mouth, Widely-spaced maxillary central incisors, Long eyelashes,... ORPHA:502434
Schuurs-Hoeijmakers Syndrome
Thin upper lip vermilion, Highly arched eyebrow, Diastema, Synophrys, Low anterior hairline, Down... OMIM:615009
Systemic Lupus Erythematosus 17
Alopecia, Oral ulcer OMIM:301080
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Abnormality of the philtrum, Tooth agenesis, High palate, Long eyelash... ORPHA:2863
Trichorhinophalangeal Syndrome, Type I
Delayed eruption of teeth, Thin upper lip vermilion, Slow-growing hair, Thin nail, Concave nail, ... OMIM:190350
Aredyld Syndrome
Smooth philtrum, Abnormal dental enamel morphology, Cachexia, Upslanted palpebral fissure, Scolio... ORPHA:1133
Trichorhinophalangeal Syndrome Type 1
Sparse eyelashes, Abnormality of the dentition, Sparse eyebrow, Hyperlordosis, Supernumerary toot... ORPHA:77258
Cerebrofaciothoracic Dysplasia
Epicanthus, Abnormal hair pattern, Cleft upper lip, Short neck, Synophrys, Hemivertebrae, Cleft p... ORPHA:1394
Bathing Suit Ichthyosis
Eclabion, Alopecia, Nail dystrophy, Sparse hair, Ectropion ORPHA:100976
Mucopolysaccharidosis, Type Iiic
Kyphoscoliosis, Synophrys, Ovoid thoracolumbar vertebrae, Coarse hair, Everted lower lip vermilio... OMIM:252930
Renpenning Syndrome 1
Thin upper lip vermilion, Epicanthus, Brittle hair, Macrodontia, Telecanthus, Cleft palate, Upsla... OMIM:309500
Auriculocondylar Syndrome 2A
Dental crowding, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... OMIM:614669
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Conical tooth, Absent eyelash... OMIM:614941
Leopard Syndrome 2
Curly hair, Epicanthus, Short neck, Thick lower lip vermilion, Downslanted palpebral fissures OMIM:611554
Lipoid Proteinosis
Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, Tongue no... ORPHA:530
Oculomaxillofacial Dysostosis
Median cleft lip, Abnormality of the dentition, Abnormal eyelash morphology, Abnormal eyelid morp... ORPHA:1794
Pontocerebellar Hypoplasia Type 10
Long palpebral fissure, Long eyelashes, Highly arched eyebrow ORPHA:411493
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Thin upper lip vermilion, Tented upper lip vermilion, Highly arched eyebrow, Kyphosis, Low anteri... OMIM:619244
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Elbow hypertrichosis, Thin upper lip vermilion, Epicanthus, Carious teeth, Obesity, High palate, ... OMIM:620191
Eem Syndrome
Sparse scalp hair, Absent eyebrow, Sparse body hair ORPHA:1897
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Sparse pubic hair, Sparse axillary hair OMIM:146110
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Palpebral edema, Absent eyelashes, Sparse body hair ORPHA:69735
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Slow-growing hair, Short neck, Abnormal hair morphology, Kyphosis, Upslanted palpebral fissure, A... ORPHA:3082
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Absent axillary hair, Eclabion, A... ORPHA:2269
17Q11.2 Microduplication Syndrome
Sparse eyelashes, Abnormal dental enamel morphology, Sparse eyebrow, Thin vermilion border, Ename... ORPHA:139474
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Brittle hair OMIM:616084
Poirier-Bienvenu Neurodevelopmental Syndrome
Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue OMIM:618732
Xq27.3Q28 Duplication Syndrome
Sparse body hair ORPHA:261483
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow OMIM:103500
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Villous atrophy, Gastritis, Small for gestational age, Co... ORPHA:84064
Ectodermal Dysplasia-Blindness Syndrome
Abnormal fingernail morphology, Hypohidrosis, Fine hair, Hyperkeratosis, Sparse hair ORPHA:1806
Naxos Disease
Subungual hyperkeratosis, Curly hair, Acantholysis, Sparse eyebrow, Diffuse palmoplantar hyperker... OMIM:601214
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Failure to thrive in infancy, Short neck, High palate, Long eyelashes, Scoliosis, Long philtrum OMIM:619026
Hydrocephalus-Obesity-Hypogonadism Syndrome
Sparse facial hair, Absent facial hair, Low posterior hairline ORPHA:2183
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Absent lacrimal punctum, Sparse eyelashes, Hyperconvex nail, Supernume... ORPHA:1071
3-Methylglutaconic Aciduria, Type Ix
High palate, Failure to thrive, Long eyelashes, Short neck OMIM:617698
X-Linked Agammaglobulinemia
Alopecia, Malabsorption, Weight loss, Glossoptosis, Conjunctivitis, Failure to thrive ORPHA:47
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Short lingual frenulum, Downturned corners of mouth, Short philtrum, Microdontia, Spina bifida oc... OMIM:617360
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Abnormal dental morphology, Abnormality of the dentit... ORPHA:978
19Q13.11 Microdeletion Syndrome
Supernumerary nipple, Cachexia, Fine hair, Wide mouth, Sparse or absent eyelashes, Thin vermilion... ORPHA:217346
Leopard Syndrome 3
Hyperkeratosis, Curly hair, Epidermal hyperkeratosis, Low posterior hairline OMIM:613707
Cerebrooculonasal Syndrome
Epicanthus, Sparse eyelashes, Sparse eyebrow, Upslanted palpebral fissure, High palate, Widely sp... ORPHA:66625
Koolen-De Vries Syndrome
Vertebral fusion, Hypopigmentation of hair, Epicanthus, Abnormal dental enamel morphology, Abnorm... ORPHA:96169
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Curly hair, Sparse eyelashes, Palmoplantar hyperkeratosis, Hyperhidrosis, Sparse ... OMIM:615280
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Albinism, Synophrys, Premature graying of hair, White forelock OMIM:193510
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Cleft lip, Narrow mouth, Obesity, Cleft palate, Downturned corners of mouth, Long eyelashes, Ever... OMIM:618089
Rothmund-Thomson Syndrome, Type 2
Delayed eruption of teeth, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Epicant... OMIM:268400
X-Linked Dominant Chondrodysplasia Punctata
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Sparse eyelashes, Abnormal hair pa... ORPHA:35173
Waardenburg Syndrome, Type 4A
White eyelashes, Aganglionic megacolon, White eyebrow, Premature graying of hair, White forelock OMIM:277580
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair OMIM:613576
Pontocerebellar Hypoplasia, Type 13
Thin upper lip vermilion, Epicanthus, Macrodontia, Low posterior hairline, High palate, Long eyel... OMIM:618606
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Failure to thrive, Sparse eyelashes, Sparse eyebrow, Bilateral cleft li... OMIM:618874
Incontinentia Pigmenti
Ridged nail, Delayed eruption of teeth, Alopecia, Supernumerary nipple, Conical tooth, Kyphoscoli... OMIM:308300
Acrogeria
Fine hair ORPHA:2500
Idiopathic Trachyonychia
Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp... ORPHA:79153
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Alopecia, Progressive cervical vertebral spine fusion, Widely sp... OMIM:135100
8Q22.1 Microdeletion Syndrome
Telecanthus, Sparse eyelashes, Abnormal hair pattern, Highly arched eyebrow, Sparse eyebrow, Abno... ORPHA:178303
Cantú Syndrome
Epicanthus, Ovoid vertebral bodies, Curly eyelashes, Short neck, Cuboid-shaped vertebral bodies, ... ORPHA:1517
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Conjunctival telangiectasia, Alopecia, Nail dystrophy, Premature loss of teeth, Alopecia of scalp OMIM:618373
Ermine Phenotype
White eyelashes, White eyebrow, White hair, Albinism OMIM:227010
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Sparse eyelashes, Trichiasis, Sparse eyebrow, Absent pubic hair, Furrowed tongue, Keratoconjuncti... OMIM:148210
Cohen Syndrome
Macrodontia, Thick hair, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Abnormal... ORPHA:193
Dyskeratosis Congenita, Digenic
Alopecia, Sparse eyelashes, Abnormality of the dentition, Bilateral ptosis, Nail dystrophy, Failu... OMIM:620040
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Thin upper lip vermilion, Low posterior hairline, High palate, Long eyelashes, Long philtrum, Dow... OMIM:617523
Tuberculosis
Weight loss ORPHA:3389
Arthrogryposis, Distal, Type 5D
Tongue atrophy, Highly arched eyebrow, Lagophthalmos, Short neck, Hyperlordosis, Cleft palate, Fu... OMIM:615065
Classic Mycosis Fungoides
Alopecia, Abnormality of the nail, Abnormal eyelid morphology ORPHA:2584
Epidermolysis Bullosa, Lethal Acantholytic
Natal tooth, Alopecia totalis, Absent fingernail, Neonatal death, Anonychia, Alopecia universalis OMIM:609638
Congenital Disorder Of Glycosylation, Type Iia
Macrodontia, Thoracolumbar kyphoscoliosis, Protruding tongue, Diastema, Short neck, Hirsutism, Gi... OMIM:212066
Flotch Syndrome
Sparse eyelashes, Abnormal eyelid morphology, Abnormal eyelash morphology, Blepharitis, Abnormali... ORPHA:2045
Orofaciodigital Syndrome Type 3
Irregular dentition, Hamartoma of tongue, Abnormality of hair texture, Abnormality of the dentiti... ORPHA:2752
Rodrigues Blindness
Sparse hair, Fine hair OMIM:268320
Intellectual Disability, Buenos-Aires Type
Abnormal fingernail morphology, Abnormal dental morphology, Open bite, Hyperconvex thumb nails, D... ORPHA:3079
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Thin upper lip vermilion, Highly arched eyebrow, Diastema, Bilateral ptosis, Synophrys, Low anter... ORPHA:329224
Chanarin-Dorfman Syndrome
Alopecia, Everted lower lip vermilion, Ectropion OMIM:275630
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Thin upper lip vermilion, Failure to thrive, Sacral dimple, Highly arched eyebrow, Short neck, Hi... OMIM:617452
Luo-Schoch-Yamamoto Syndrome
Highly arched eyebrow, Almond-shaped palpebral fissure, Ectropion of lower eyelids, Wide mouth, W... OMIM:619460
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Alopecia, Oral mucosal blisters, Esophageal stricture, Conjun... OMIM:226600
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Epicanthus, Telecanthus, Sparse eyelashes, Dental crowding, Dental mal... OMIM:257850
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Conjunctivitis, Nail dystrophy, Ble... OMIM:308800
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Sacral dimple, Large for gestation... ORPHA:544488
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Nail dystrophy, Alopecia totalis ORPHA:1366
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Hyperkeratosis with erythema, Coarse hair OMIM:118650
Focal Facial Dermal Dysplasia Type Ii
Trichiasis, Sparse eyebrow, Ectropion of lower eyelids, Curved linear dimple below the lower lip,... ORPHA:398173
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Exaggerated cupid's bow, Highly arched eyebrow, Synophrys, Long eyelashes, Frontal upsweep of hai... OMIM:619286
Trisomy 20P
Short neck, Low anterior hairline, Abnormal form of the vertebral bodies, Downturned corners of m... ORPHA:261318
Developmental And Epileptic Encephalopathy 64
Smooth philtrum, Thin upper lip vermilion, Epicanthus, Highly arched eyebrow, Sparse eyebrow, Thi... OMIM:618004
Gand Syndrome
Sparse hair OMIM:615074
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Epicanthus, Palpebral edema, Absen... OMIM:137940
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Aganglionic megacolon, Synophrys, Pieba... ORPHA:2884
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Costello Syndrome
Deep-set nails, Epicanthus, Abnormal fingernail morphology, Abnormal dental enamel morphology, Fa... ORPHA:3071
Mucoepithelial Dysplasia, Hereditary
Alopecia, Erythematous oral mucosa, Furrowed tongue, Keratoconjunctivitis, Coarse hair, Nail dyst... OMIM:158310
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Absent lacrimal punctum, Alopecia, Abnormal hair pattern, Abnormality ... ORPHA:2315
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Kyphosis, Thick lower lip vermilion, Obesity, Prominent median ... OMIM:300602
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Sparse scalp hair, Epicanthus, Telecanthus, Sparse eyelashes, Kyphoscoliosis, Sparse eyebrow, Abn... ORPHA:75496
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Alopecia, Hypoplastic fingernail, Abnormal dental enamel morphology, Hyperconvex fingernails, Ptosis ORPHA:257
Bachmann-Bupp Syndrome
Absent eyebrow, Sparse scalp hair, Thin upper lip vermilion, Sparse eyelashes, Large for gestatio... OMIM:619075
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Curly hair, Epicanthus, Hyperlordosis, Almond-shaped palpebral fissure, Wide mouth, Thick vermili... OMIM:300986
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Short neck, Orofacial cleft, Downturned corners of mouth, Vertebral s... ORPHA:1507
9q subtelomeric deletion syndrome
Synophrys, Protruding tongue DECIPHER:52
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Sparse scalp hair, Ptosis, Highly arched eyebrow, Hypoplastic fifth fi... OMIM:615866
Desbuquois Syndrome
Sparse hair, Scoliosis, Abnormal eyelash morphology, Short neck ORPHA:1425
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Oligodontia, Hypodontia, Sparse hair, Ena... OMIM:607626
Ichthyosis, Congenital, Autosomal Recessive 2
Alopecia, Thin nail, Abnormal hair morphology, Everted lower lip vermilion, Small nail, Ectropion OMIM:242100
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Abnormal dental enamel morphology, Kyphosis, Upslanted palpebral fissure, Vertebral seg... ORPHA:1005
X-Linked Intellectual Disability, Cabezas Type
Epicanthus, Abnormal hair pattern, Cachexia, Open bite, Short neck, Synophrys, Thick lower lip ve... ORPHA:85293
Oculopharyngodistal Myopathy
High, narrow palate, Weight loss, High palate, Difficulty in tongue movements, Progressive ptosis ORPHA:98897
Autosomal Dominant Robinow Syndrome
Short neck, High, narrow palate, Abnormality of the gingiva, Hemivertebrae, Abnormal form of the ... ORPHA:3107
Short Syndrome
Alopecia, Telecanthus, Abnormal dental enamel morphology, Abnormality of the dentition, Weight lo... ORPHA:3163
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Premature ... ORPHA:3437
Epilepsy, Progressive Myoclonic, 9
Microglossia, Scoliosis OMIM:616540
Roifman Syndrome
Thin upper lip vermilion, Biconvex vertebral bodies, Prominent eyelashes, Downturned corners of m... OMIM:616651
Barber-Say Syndrome
Delayed eruption of teeth, Ablepharon, Telecanthus, Wide mouth, Sparse or absent eyelashes, Breas... ORPHA:1231
Keratosis Pilaris Atrophicans
Absent eyelashes, Sparse eyebrow OMIM:604093
Satoyoshi Syndrome
Alopecia, Alopecia universalis, Malabsorption OMIM:600705
Ichthyosis, Hystrix-Like, With Deafness
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow OMIM:602540
Birk-Barel Syndrome
Sacral dimple, Tented upper lip vermilion, Highly arched eyebrow, High palate, Long eyelashes, Sh... OMIM:612292
Noonan Syndrome 4
Curly hair, Epicanthus, Large for gestational age, Sparse eyebrow, Bilateral ptosis, Short neck, ... OMIM:610733
Hereditary Bullous Dystrophy, Macular Type
Nail dystrophy, Alopecia, Congenital abnormal hair pattern, Atrichia ORPHA:1867
Schwartz-Jampel Syndrome, Type 1
Pursed lips, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Short neck, Narrow mouth, D... OMIM:255800
Focal Dermal Hypoplasia
Ridged nail, Brittle hair, Anteriorly placed anus, Oligodontia, Absent fingernail, Sparse hair, S... OMIM:305600
Orofaciodigital Syndrome Xix
Epicanthus, Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Low posteri... OMIM:620107
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Thin upper lip vermilion, Failure to thrive, Sacral dimple, Highly arched eyebrow, Short neck, Hi... ORPHA:505237
Noonan Syndrome 6
Curly hair, Epicanthus, Long eyebrows, Short neck, Bilateral ptosis, Low posterior hairline, Spar... OMIM:613224
Spinocerebellar Ataxia-Dysmorphism Syndrome
Epicanthus, Downturned corners of mouth, Coarse hair, Thick vermilion border, Spina bifida occult... ORPHA:1185
Abnormal Hair, Joint Laxity, And Developmental Delay
Alopecia, Fragile nails, Small nail, Microdontia, Pili torti, Trichorrhexis nodosa, Sparse latera... OMIM:261990
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Sparse hair OMIM:273390
Koolen-De Vries Syndrome
High palate, Widely spaced teeth, Vertebral fusion, Cleft upper lip, Scoliosis, Ptosis, Abnormali... OMIM:610443
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Abnormal hair morphology, Weight loss, Premature graying of hair, Narrow mouth ORPHA:1979
Tonne-Kalscheuer Syndrome
Concave nail, Velopharyngeal insufficiency, Fine hair, Downturned corners of mouth, Widely spaced... OMIM:300978
Arthrogryposis And Ectodermal Dysplasia
Absent eyebrow, Entropion, Abnormal dental enamel morphology, Trichiasis, Cleft upper lip, Kyphos... OMIM:601701
Fetal Hydantoin Syndrome
Ptosis, Epicanthus, Cleft palate, Low posterior hairline, Wide mouth, Coarse hair, Everted lower ... ORPHA:1912
Gomez-Lopez-Hernandez Syndrome
Alopecia, Thin vermilion border, High palate, Downslanted palpebral fissures, Smooth philtrum OMIM:601853
Sulfite Oxidase Deficiency, Isolated
Fine hair OMIM:272300
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Alopecia, High palate, Spinal canal stenosis, Abnormality of the dentition OMIM:618282
Osteogenesis Imperfecta, Type Xiii
Kyphoscoliosis, Generalized hirsutism, Platyspondyly, Thin vermilion border, Long eyelashes, Scol... OMIM:614856
Chromosome 19Q13.11 Deletion Syndrome, Distal
Sparse eyelashes, Blepharophimosis, Sparse eyebrow, Carious teeth, Thin vermilion border, Short p... OMIM:613026
Mucopolysaccharidosis, Type Iiib
Synophrys, Coarse hair, Hirsutism OMIM:252920
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia, Atrophic gastritis OMIM:616576
Noonan Syndrome 7
Curly hair, Epicanthus, Large for gestational age, Short neck, Low posterior hairline, Thick verm... OMIM:613706
Facioscapulohumeral Dystrophy
Abnormal eyelash morphology, Palpebral edema, Hyperlordosis ORPHA:269
Androgen Insensitivity Syndrome
Sparse pubic hair, Absent facial hair, Sparse axillary hair OMIM:300068
Williams-Beuren Region Duplication Syndrome
Small for gestational age, Diastema, High palate, Long eyelashes, Horizontal eyebrow, Short philt... OMIM:609757
Microcephaly 26, Primary, Autosomal Dominant
Protruding tongue, Prominent eyelashes, Gingival overgrowth, Upslanted palpebral fissure, Scolios... OMIM:619179
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Scoliosis, Long eyelashes, Broad philtrum, Long philtrum OMIM:618577
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Thin upper lip vermilion, Epicanthus, Failure to thrive in infancy, Cachexia, Short neck, Short p... OMIM:616801
Holocarboxylase Synthetase Deficiency
Alopecia, Weight loss, Keratoconjunctivitis ORPHA:79242
Hallermann-Streiff Syndrome
Natal tooth, Alopecia, Telecanthus, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow... ORPHA:2108
Orofaciodigital Syndrome I
Alopecia, Dry hair, Median cleft lip, Epicanthus, Hamartoma of tongue, Cleft upper lip, Carious t... OMIM:311200
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Thin upper lip vermilion, Epicanthus, Fine hair, Wide mouth, Widely-spaced maxillary central inci... ORPHA:363686
Shashi-Pena Syndrome
Thin upper lip vermilion, Ptosis, Epicanthus, Highly arched eyebrow, Kyphosis, Synophrys, Long ey... OMIM:617190
Idiopathic Achalasia
Weight loss ORPHA:930
Myasthenic Syndrome, Congenital, 10
Tongue atrophy, Ptosis OMIM:254300
Down Syndrome
Epicanthus, Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Short neck, T... ORPHA:870
Mucopolysaccharidosis, Type Iiia
Synophrys, Ovoid thoracolumbar vertebrae, Coarse hair, Scoliosis, Hirsutism OMIM:252900
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Tongue atrophy, Kyphoscoliosis ORPHA:496689
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkeratosis, N... ORPHA:79151
Frontonasal Dysplasia 3
Absent eyebrow, Sparse eyelashes, Upper eyelid coloboma, Cleft palate OMIM:613456
Nablus Mask-Like Facial Syndrome
Thin upper lip vermilion, Telecanthus, Sparse eyelashes, Highly arched eyebrow, Abnormality of th... OMIM:608156
Mandibuloacral Dysplasia
Alopecia, Dental crowding, Abnormal tongue morphology, Hypoplasia of teeth, High palate, Sparse h... ORPHA:2457
Hartnup Disorder
Glossitis OMIM:234500
Ifap Syndrome 2
Sparse hair, Nail dystrophy, Atrichia OMIM:619016
Netherton Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology, Fine hair, Trichor... ORPHA:634
Frontonasal Dysplasia 2
Telecanthus, Sparse eyelashes, Alopecia totalis, Conical tooth, Sparse eyebrow, Blepharophimosis,... OMIM:613451
Gapo Syndrome
Delayed eruption of teeth, Alopecia, Sparse eyelashes, Palpebral edema, Sparse eyebrow, Early bal... ORPHA:2067
Alopecia-Intellectual Disability Syndrome 4
Alopecia OMIM:618840
Leukodystrophy, Hypomyelinating, 10
Prominent eyelashes, Upslanted palpebral fissure, Thin vermilion border, Long philtrum, Failure t... OMIM:616420
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia, Premature loss of primary teeth, Abnormality of the dentition, Abnormal form of the ver... ORPHA:93160
Noonan Syndrome 8
Curly hair, Epicanthus, Large for gestational age, Short neck, Failure to thrive, Downslanted pal... OMIM:615355
Filippi Syndrome
Sparse hair, Frontal hirsutism, Hypertrichosis OMIM:272440
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Thin upper lip vermilion, Epicanthus, Pierre-Robin sequence, Glossoptosis, Narrow palpebral fissu... OMIM:613604
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Ptosis, Furrowed tongue ORPHA:2743
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Sparse scalp hair, Natal tooth, Epicanthus, Sparse eyelashes, Hypoplastic toenails, Sparse eyebro... OMIM:616901
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue atrophy, Tongue fasciculations OMIM:613435
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Smooth philtrum, Thin upper lip vermilion, Laterally extended eyebrow, Thick eyebrow, Hooded eyel... OMIM:610759
Noonan Syndrome 9
Sparse eyebrow, Curly hair OMIM:616559
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Abnormality of the cervical spine, Kyphosis, Long eyelashes, Scoliosis ORPHA:48431
Roifman Syndrome
Thin upper lip vermilion, Biconvex vertebral bodies, Hyperconvex nail, Prominent eyelashes, Downt... ORPHA:353298
Trichotillomania
Alopecia OMIM:613229
Smith-Kingsmore Syndrome
Curly hair, Thin upper lip vermilion, Large for gestational age, Wide mouth, Long philtrum, Open ... OMIM:616638
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Absent lacrimal punctum, Telecanthus, Highly arched eyebrow, Absent eyelashes, Thick vermilion bo... ORPHA:228396
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair, Distal amyotrophy, Facial palsy OMIM:256850
Autoimmune Polyendocrinopathy Type 2
Celiac disease, Alopecia ORPHA:3143
Ane Syndrome
Alopecia, Kyphoscoliosis, Carious teeth, Hypodontia, Premature loss of teeth ORPHA:157954
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Cachexia, Malabsorption, Weight loss, Slender build OMIM:613662
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Alopecia, Conjunctivitis, Sparse hair, Failure to thrive, Fragile nails OMIM:242150
Noonan Syndrome 14
Curly hair, Epicanthus, Lacrimal duct stenosis, Short neck, Sparse eyebrow, High, narrow palate, ... OMIM:619745
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Synophrys, Long eyelashes, Failure to thrive in infancy OMIM:619064
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Epicanthus, Short lingual frenulum, Short uvula, Cleft palate, Fine hair, Agenesis of permanent t... OMIM:614091
Basel-Vanagaite-Smirin-Yosef Syndrome
Epicanthus, Tented upper lip vermilion, Kyphosis, Cleft palate, Furrowed tongue, High palate, Sho... OMIM:616449
Lipoid Proteinosis Of Urbach And Wiethe
Patchy alopecia OMIM:247100
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Cleft palate, Long philtrum ORPHA:166100
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Pierre-Robin sequence, Cleft palate, Glossoptosis, Lumbar scoliosis, Scoliosis, Hypoplastic cervi... OMIM:620269
Pontocerebellar Hypoplasia, Type 8
Tented upper lip vermilion, Synophrys, Long eyelashes, Scoliosis, Thick eyebrow, Hypertrichosis OMIM:614961
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis OMIM:614876
Cahmr Syndrome
Generalized hypertrichosis OMIM:211770
Plummer-Vinson Syndrome
Tongue atrophy, Concave nail, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mou... ORPHA:54028
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Epicanthus, Thick lower lip vermilion, Obesity, Long eyelashes, Narrow mouth, Thick upper lip ver... OMIM:608624
Dyskeratosis Congenita, Autosomal Recessive 1
Sparse scalp hair, Sparse eyelashes, Carious teeth, Esophageal stricture, Pterygium of nails, Nas... OMIM:224230
Hajdu-Cheney Syndrome
Short neck, Synophrys, High palate, Premature loss of teeth, Narrow mouth, Vertebral compression ... OMIM:102500
Cartilage-Hair Hypoplasia
Anal stenosis, Lumbar hyperlordosis, Sparse eyelashes, Sparse facial hair, Aganglionic megacolon,... OMIM:250250
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Submucous cleft hard palate, Low anterior hairline, Glossoptosis, Hypodontia ORPHA:3201
Trichohepatoneurodevelopmental Syndrome
Dental crowding, Synophrys, Downturned corners of mouth, Coarse hair, High palate, Widely spaced ... OMIM:618268
Orofaciodigital Syndrome Iii
Hyperconvex nail, Kyphosis, Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid... OMIM:258850
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Short neck, Deep philtrum, Coarse hair, High palate, Widely spaced teeth, Sparse hair, Bifid uvul... OMIM:617506
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Medial flaring of the eyebrow, Tented upper lip vermilion, Exaggerated cupid's bow, Deep philtrum... OMIM:619833
Acrofacial Dysostosis, Catania Type
Abnormal hair pattern, Abnormality of the dentition, Carious teeth, Abnormal palate morphology, T... ORPHA:1786
Olmsted Syndrome 1
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis OMIM:614594
Dyskeratosis Congenita
Abnormal eyebrow morphology, Alopecia, Esophageal stenosis, Abnormal fingernail morphology, Abnor... ORPHA:1775
Oculodentodigital Dysplasia
Dry hair, Epicanthus, Slow-growing hair, Selective tooth agenesis, Cleft upper lip, Carious teeth... OMIM:164200
2P21 Microdeletion Syndrome
Failure to thrive, Long eyelashes ORPHA:163693
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Sparse hair, Sparse eyebrow OMIM:619989
2P15P16.1 Microdeletion Syndrome
Ptosis, Epicanthus, Telecanthus, Supernumerary nipple, Sparse eyebrow, Kyphosis, Fine hair, High ... ORPHA:261349
Adams-Oliver Syndrome 2
Narrow palpebral fissure, Alopecia, Low anterior hairline, Small nail OMIM:614219
Intellectual Developmental Disorder, Autosomal Dominant 29
Thin upper lip vermilion, Ptosis, Lumbar hyperlordosis, Dental crowding, Short palpebral fissure,... OMIM:616078
Kabuki Syndrome 2
Natal tooth, Epicanthus, Highly arched eyebrow, Lower lip pit, Dental malocclusion, Cleft palate,... OMIM:300867
Satoyoshi Syndrome
Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis, Hyperlordosis ORPHA:3130
Sézary Syndrome
Alopecia, Nail dystrophy, Ectropion ORPHA:3162
Inflammatory Skin And Bowel Disease, Neonatal, 2
Failure to thrive, Long eyelashes OMIM:616069
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Aphthous ulcer, Ulcerative colitis, Weight loss, Inflammation of the larg... OMIM:266600
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Neonatal death, Brittle hair, Ragged-red muscle fibers, Rhabdomyolysis OMIM:124000
Pachyonychia Congenita 3
Chapped lip, Onychogryposis of toenails, Gingivitis, Furrowed tongue, Nail dystrophy, Oral leukop... OMIM:615726
Bainbridge-Ropers Syndrome
Thin upper lip vermilion, Epicanthus, Dental crowding, Intestinal malrotation, Highly arched eyeb... OMIM:615485
Oculocerebrocutaneous Syndrome
Alopecia, Abnormal fingernail morphology, Orofacial cleft, Wide mouth, Eyelid coloboma, Ptosis ORPHA:1647
Diencephalic Syndrome
Everted lower lip vermilion, Cachexia, Decreased body weight ORPHA:1672
Microphthalmia With Limb Anomalies
Sacral dimple, Cleft upper lip, Abnormal eyelash morphology, Deep philtrum, Cleft palate, High pa... OMIM:206920
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Epicanthus, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Hemivertebrae, Abnorma... ORPHA:2759
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... ORPHA:158668
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development
Smooth philtrum, Ptosis, Telecanthus, Small for gestational age, Supernumerary nipple, Low anteri... OMIM:604314
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Synophrys, Gingival overgrowth, Fine hair, Long philtrum, Smooth philtrum OMIM:619428
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Woolly hair OMIM:610193
Acute Myelomonocytic Leukemia
Abnormality of the gingiva, Weight loss ORPHA:517
Progeria-Short Stature-Pigmented Nevi Syndrome
Alopecia, Thoracic scoliosis, Small for gestational age, Selective tooth agenesis, Dental maloccl... ORPHA:2959
Congenital Disorder Of Glycosylation, Type Im
Sparse eyebrow, Alopecia, Failure to thrive, Sparse eyelashes OMIM:610768
Mucopolysaccharidosis, Type Iiid
Thoracic scoliosis, Pilonidal sinus, Short neck, Synophrys, Thick lower lip vermilion, Hirsutism,... OMIM:252940
Gapo Syndrome
Alopecia, Epicanthus, Sparse eyelashes, Sparse eyebrow, High, narrow palate, Thick lower lip verm... OMIM:230740
Gorlin-Chaudhry-Moss Syndrome
Abnormality of the dentition, Abnormal eyelid morphology, Low anterior hairline, Upper eyelid col... ORPHA:2095
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Increased body weight, Hirsutism OMIM:615830
Chops Syndrome
Curly hair, Thick hair, High, narrow palate, Synophrys, Obesity, Downturned corners of mouth, Coa... OMIM:616368
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Alopecia, Sparse eyelashes, Dental crowding, Sparse eyebrow, Dental malocclusi... OMIM:614008
Waardenburg Syndrome, Type 1
Smooth philtrum, Telecanthus, White eyelashes, White eyebrow, Synophrys, Orofacial cleft, Prematu... OMIM:193500
Anauxetic Dysplasia 2
Sparse hair, Nail dysplasia, Small nail OMIM:617396
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Epicanthus, Sparse eyelashes, Sparse eyebrow, Carious teeth, Alveolar ridge overgrowth, Downturne... OMIM:620070
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence OMIM:192445
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Downslanted palpebral fissures, Sparse eyelashes, Cleft palate OMIM:300946
Ramos-Arroyo Syndrome
Sparse scalp hair, Aganglionic megacolon, Carious teeth, Dacryocystitis, Xerostomia, Nasolacrimal... ORPHA:1051
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Telecanthus, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Synophry... ORPHA:364577
Glass Syndrome
Dental crowding, Conical tooth, Pierre-Robin sequence, Gingival overgrowth, Cleft palate, Oligodo... OMIM:612313
Bartsocas-Papas Syndrome 1
Cicatricial lagophthalmos, Short neck, Ankyloblepharon, Pterygium, Absent eyebrow, Alopecia, Clef... OMIM:263650
Marshall-Smith Syndrome
Protruding tongue, Gingival overgrowth, Scoliosis, Open mouth, Failure to thrive, Generalized hir... ORPHA:561
Huntington Disease-Like 2
Weight loss ORPHA:98934
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair, Lactose intolerance, Large for gestational age, Wide mouth, Downslanted palpebral fis... ORPHA:457485
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Patchy alopecia, High palate ORPHA:85279
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Sparse hair, Hypoplastic nipples, Small nail OMIM:273400
Hamamy Syndrome
Thin upper lip vermilion, Telecanthus, Sparse eyelashes, Blepharophimosis, Sparse eyebrow, Dental... OMIM:611174
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Natal tooth, Absent eyelashes, Cleft palate, Absent toenail, Absent fingernail, C... ORPHA:158687
9Q21.13 Microdeletion Syndrome
Abnormal tongue morphology, Downturned corners of mouth, Vertebral segmentation defect, Scoliosis... ORPHA:531151
Nicolaides-Baraitser Syndrome
Dry hair, Short lingual frenulum, High, narrow palate, Low anterior hairline, Widely spaced teeth... OMIM:601358
Lateral Meningocele Syndrome
Vertebral fusion, Telecanthus, Dental crowding, Short neck, Kyphosis, Cleft palate, Coarse hair, ... OMIM:130720
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Carious teeth, Nail pits, Premature graying of hair, Nail dystrophy, Spars... OMIM:127550
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Large for gestational age, Short neck, Synophrys, Low anterior hairline, Hemivertebrae, High pala... OMIM:213980
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Abnormal large intestine morphology, Weight loss ORPHA:2198
Limb-Mammary Syndrome
Absent lacrimal punctum, Alopecia, Absent nipple, Chronic irritative conjunctivitis, Sparse eyebr... ORPHA:69085
Mucopolysaccharidosis, Type Vii
Epicanthus, Anterior beaking of lower thoracic vertebrae, Short neck, Hypoplasia of the odontoid ... OMIM:253220
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Generalized hirsutism, Cachexia, Ptosis ORPHA:1933
Gm1 Gangliosidosis
Hyperlordosis, Kyphosis, Gingival overgrowth, Abnormal form of the vertebral bodies, Weight loss,... ORPHA:354
Absent Eyebrows And Eyelashes With Mental Retardation
Absent eyelashes, Absent eyebrow OMIM:200130
Macrocephaly/Autism Syndrome
Epicanthus, Large for gestational age, Obesity, Coarse hair, High palate, Long philtrum OMIM:605309
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Thin upper lip vermilion, Thick eyebrow, Diastema, Furrowed tongue, Upslanted palpebral fissure, ... OMIM:300534
Developmental And Speech Delay Due To Sox5 Deficiency
Exaggerated median tongue furrow, Vertebral fusion, Lumbar hyperlordosis, Dental crowding, Thorac... ORPHA:313892
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Tongue atrophy, Scoliosis OMIM:616155
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Thin upper lip vermilion, Downturned corners of mouth, Lobulated tongue, Upslanted palpebral fiss... OMIM:613443
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Nail dystrophy, Onychogryposis ORPHA:79395
Cardiofaciocutaneous Syndrome 1
Short neck, Deep philtrum, High palate, Sparse hair, Absent eyebrow, Absent eyelashes, Open bite,... OMIM:115150
Cdags Syndrome
Sparse scalp hair, Ectropion, Sparse eyelashes, Sparse eyebrow, Rectourethral fistula, Kyphosis, ... OMIM:603116
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Kyphoscoliosis, Short neck, Sparse eyebrow, Hemivertebrae, Punctate vertebral c... OMIM:302960
Ritscher-Schinzel Syndrome 4
Curly hair, Narrow palate, Wide mouth, Thick vermilion border, High palate, Short philtrum, Scoli... OMIM:619435
Hypotonia-Cystinuria Syndrome
Failure to thrive, Tented upper lip vermilion, Long eyelashes, Ptosis OMIM:606407
Chromosome 6Q24-Q25 Deletion Syndrome
Medial flaring of the eyebrow, Thin upper lip vermilion, Sparse eyelashes, Hooded eyelid, High, n... OMIM:612863
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormality of upper lip vermillion, Dental crowding, Lumbar hyperlordosis, Abnormality of the de... ORPHA:251028
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Failure to thrive, Oral ulcer ORPHA:169154
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Epicanthus, Protruding tongue, Synophrys, Widow's peak, Upper eyelid edema, High palate, Everted ... OMIM:617804
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Alopecia, Abnormality of the dentition, Absent eyelashes, High palat... ORPHA:90153
Mogs-Cdg
Alopecia, Thoracic scoliosis, High palate, Long eyelashes, Fair hair, Short palpebral fissure, Hi... ORPHA:79330
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Abnormal eyebrow morphology, Alopecia, Thin upper lip vermilion, Sparse facial hair, Lumbar hyper... ORPHA:2232
17Q23.1Q23.2 Microdeletion Syndrome
Epicanthus, Sacral dimple, Highly arched eyebrow, Long eyelashes, Widely spaced teeth, Scoliosis,... ORPHA:261279
Wiedemann-Steiner Syndrome
Thin upper lip vermilion, Epicanthus, Telecanthus, Sacral dimple, Synophrys, Long eyelashes, High... ORPHA:319182
Celiac Disease, Susceptibility To, 1
Alopecia, Celiac disease, Weight loss, Recurrent aphthous stomatitis, Steatorrhea, Stomatitis, En... OMIM:212750
Griscelli Syndrome
Abnormal eyebrow morphology, Abnormal eyelash morphology, Silver-gray hair, Pyloric stenosis, Whi... ORPHA:381
Mucopolysaccharidosis-Plus Syndrome
Epicanthus, Telecanthus, Short neck, Synophrys, Low anterior hairline, Low posterior hairline, Ma... OMIM:617303
Ogden Syndrome
Everted upper lip vermilion, High, narrow palate, Fine hair, Scoliosis, Downslanted palpebral fis... ORPHA:276432
Hallermann-Streiff Syndrome
Sparse scalp hair, Natal tooth, Sparse eyelashes, Selective tooth agenesis, Small for gestational... OMIM:234100
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Hypopigmentation of hair, Telecanthus, Open bite, Widow's peak, Deep philtrum, Wide mou... ORPHA:1974
Coffin-Siris Syndrome 4
Sparse scalp hair, Everted upper lip vermilion, Thin upper lip vermilion, Ptosis, Thick lower lip... OMIM:614609
Omenn Syndrome
Alopecia, Failure to thrive, Aplasia/Hypoplasia of the eyebrow ORPHA:39041
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Fine hair, Premature graying of hair, Nail dysplasia, Oral leukoplakia OMIM:613990
Bleeding Disorder, Platelet-Type, 21
Alopecia OMIM:617443
Neuropathy, Congenital Hypomyelinating, 3
Epicanthus, Cachexia, Gingival overgrowth, Narrow palate, Thick vermilion border, High palate, Ne... OMIM:618186
Nager Syndrome
Sparse lower eyelashes, Non-midline cleft lip, Lower eyelid coloboma, Cleft palate, Wide mouth, A... ORPHA:245
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Cachexia, Short neck, Thin vermilion border, Long philtrum, Downslanted pa... ORPHA:1438
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Failure to thrive, Alopecia, Ileus, Villous atrophy OMIM:304790
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Downslanted palpebral fissures, Curly hair, High palate, Vertebral arch anomaly ORPHA:85184
Orofaciodigital Syndrome V
Unilateral ptosis, Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hamartoma o... OMIM:174300
Cranioectodermal Dysplasia
Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology ORPHA:1515
Incontinentia Pigmenti
Delayed eruption of teeth, Alopecia, Abnormal fingernail morphology, Abnormal dental enamel morph... ORPHA:464
Even-Plus Syndrome
Sparse hair, Synophrys, Highly arched eyebrow OMIM:616854
Intellectual Developmental Disorder, Autosomal Recessive 5
Sparse hair, Synophrys, Thick eyebrow OMIM:611091
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Abnormality of the dentition, Abnormal hair morphology, Nail dystrophy, Narrow mouth ORPHA:90154
Kabuki Syndrome
Hemivertebrae, Orofacial cleft, Abnormal form of the vertebral bodies, High palate, Widely spaced... ORPHA:2322
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Epicanthus, Short neck, Fine hair, Thin vermilion border, Long philtrum, Thick eyebrow OMIM:614800
Auriculocondylar Syndrome 3
Glossoptosis, Bifid uvula, Ectropion OMIM:615706
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Low back pain, Alopecia OMIM:600142
Robinow Syndrome, Autosomal Dominant 3
Epicanthus, Telecanthus, Sacral dimple, Short neck, Cleft lip, Kyphosis, Dental malocclusion, Gin... OMIM:616894
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Psoriasis 14, Pustular
Geographic tongue, Nail dystrophy, Furrowed tongue OMIM:614204
Auriculocondylar Syndrome 1
Dental crowding, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, Anterior open-... OMIM:602483
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Alopecia, Atrophic gastritis, Malabsorption, Keratoconjunctivitis, Nail dystrophy, Enamel hypopla... OMIM:240300
Trisomy 13
Median cleft lip, Abnormality of the dentition, Abnormal eyelash morphology, High, narrow palate,... ORPHA:3378
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Entropion, Trichiasis, Sparse eyebrow, Kyphosis, High palate, Short philtrum, Thin eyebrow OMIM:609944
Alstrom Syndrome
Alopecia, Abnormality of the dentition, Kyphosis, Gingivitis, Truncal obesity, Scoliosis OMIM:203800
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Epicanthus, Abnormal dental enamel morphology, Supernumerary nipple, Abnormal eyelid morphology, ... ORPHA:1812
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Protruding tongue, Obesity, Wide mouth, Widely spaced teeth ORPHA:411511
Treacher-Collins Syndrome
Low anterior hairline, Glossoptosis, Eyelid coloboma, High palate, Abnormal dental morphology, Ab... ORPHA:861
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Short neck, High, narrow palate, Deep philtrum, Low anterior hairline, Downturned corners of mout... OMIM:619950
Faciocardiomelic Dysplasia, Lethal
Neonatal death, Microglossia, Small for gestational age, Narrow mouth OMIM:227270
Autoimmune Lymphoproliferative Syndrome, Type Iii
Alopecia OMIM:615559
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Protruding tongue, Low anterior hairline, Gingival overgrowth, Wide mouth, Horizontal eyebrow, Hi... OMIM:618797
Developmental And Epileptic Encephalopathy 48
Long palpebral fissure, Long eyelashes OMIM:617276
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Thin upper lip vermilion, Upslanted palpebral fissure, Patchy alopecia, Long philtrum, Sparse hai... OMIM:617763
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Sparse facial hair, Sparse axillary hair OMIM:608154
Angelman Syndrome
Protruding tongue, Obesity, Wide mouth, Macroglossia, Widely spaced teeth, Scoliosis, Fair hair OMIM:105830
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Curly eyelashes, Short neck, Anterior scalloping of vertebral bodies, Thick lower lip vermilion, ... OMIM:611717
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Small nail, Downslanted palpebral fissures ORPHA:166035
Adams-Oliver Syndrome
Alopecia, Esophageal varix, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Failure... ORPHA:974
Neutral Lipid Storage Disease With Ichthyosis
Ptosis, Alopecia, Obesity, Eclabion, Ectropion ORPHA:98907
Pfapa Syndrome
Weight loss, Abnormal oral cavity morphology, Malabsorption ORPHA:42642
Centrifugal Lipodystrophy
Alopecia ORPHA:90156
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity, Furrowed tongue ORPHA:2928
Giant Cell Arteritis
Alopecia, Weight loss, Glossitis, Ptosis ORPHA:397
Chand Syndrome
Curly hair, Cleft palate, Agenesis of permanent teeth, Ankyloblepharon, Abnormal oral frenulum mo... ORPHA:1401
Revesz Syndrome
Nail pits, Fine hair, Nail dystrophy, Sparse hair, Ridged fingernail OMIM:268130
Laryngeal Neuroendocrine Tumor
Weight loss ORPHA:100083
Opitz-Kaveggia Syndrome
Anal stenosis, Epicanthus, Dental crowding, Intestinal malrotation, Lumbar hyperlordosis, Cleft u... OMIM:305450
Rothmund-Thomson Syndrome
Delayed eruption of teeth, Sparse eyelashes, Alopecia totalis, Selective tooth agenesis, Abnormal... ORPHA:2909
Classical-Like Ehlers-Danlos Syndrome Type 2
Alopecia, Long uvula, Thoracic scoliosis, Sacral dimple, Kyphoscoliosis, Bilateral ptosis, Kyphos... ORPHA:536532
White-Kernohan Syndrome
Thin upper lip vermilion, Epicanthus, Tented upper lip vermilion, Telecanthus, Synophrys, Broad m... OMIM:619426
Shukla-Vernon Syndrome
Sparse hair OMIM:301029
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Carious teeth, Glossoptosis, Platyspondyly, Cervical instability, ... ORPHA:93346
Osteogenesis Imperfecta, Type Xviii
Vertebral compression fracture, Long eyelashes, Biconcave vertebral bodies, Abnormality of the de... OMIM:617952
Carey-Fineman-Ziter Syndrome
Epicanthus, Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, Cleft palate, Glossoptosis, ... ORPHA:1358
Chronic Hiccup
Weight loss ORPHA:396
Intellectual Developmental Disorder, Autosomal Dominant 1
Thin upper lip vermilion, Highly arched eyebrow, Hemivertebrae, Low posterior hairline, Downturne... OMIM:156200
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Nail dystrophy,... ORPHA:1010
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Protruding tongue, Hypoplastic toenails, Short neck, Alveolar ridge overgrowth, Cleft palate, Thi... OMIM:612938
Schimke Immunoosseous Dysplasia
Lumbar hyperlordosis, Small for gestational age, Ovoid vertebral bodies, Short neck, Fine hair, C... OMIM:242900
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Oral mucosal blisters, Smooth tongue, Nail dystrophy, Enamel hypoplasia, Failure to thr... ORPHA:79396
Seckel Syndrome
Sparse scalp hair, Abnormal dental enamel morphology, Cachexia, Tooth agenesis, Scoliosis, Downsl... ORPHA:808
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy ORPHA:216873
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Pontocerebellar Hypoplasia, Type 10
Thin upper lip vermilion, Highly arched eyebrow, Short neck, Kyphoscoliosis, Synophrys, High pala... OMIM:615803
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Telecanthus, Tented upper lip vermilion, Exaggerated cupid's bo... OMIM:608670
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Wide mouth, Hypopigmentation of hair, Widely spaced teeth, Protruding tongue ORPHA:98795
Congenital Disorder Of Glycosylation, Type Iig
Thin upper lip vermilion, Thoracic scoliosis, Failure to thrive in infancy, Kyphoscoliosis, Short... OMIM:611209
Auriculocondylar Syndrome
Dental crowding, Hamartoma of tongue, Narrow mouth, Microglossia, Dental malocclusion, Cleft pala... ORPHA:137888
Pilarowski-Bjornsson Syndrome
Almond-shaped palpebral fissure, Downslanted palpebral fissures, Long eyelashes, Broad eyebrow OMIM:617682
Kinsship Syndrome
Thin upper lip vermilion, Sacral dimple, Short palpebral fissure, Short neck, Synophrys, Thick lo... OMIM:619297
Tetraamelia Syndrome 2
Absent nipple, Bilateral cleft lip, Cleft palate, Glossoptosis, Ankyloglossia OMIM:618021
Diamond-Blackfan Anemia 21
Unilateral ptosis, Synophrys, Widow's peak, Obesity, Coarse hair, Horizontal eyebrow, Narrow mout... OMIM:620072
Kid Syndrome
Sparse eyelashes, Angular cheilitis, Lip fissure, Abnormality of the dentition, Sparse eyebrow, S... ORPHA:477
Allergic Bronchopulmonary Aspergillosis
Abnormal fingernail morphology, Weight loss ORPHA:1164
Oculocutaneous Albinism Type 1
Generalized hypopigmentation of hair, White eyelashes, White eyebrow ORPHA:352731
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Curly hair, Sparse scalp hair, Epicanthus, Large for gestational age, Short neck, Loose anagen ha... OMIM:607721
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Epicanthus, Carious teeth, Enamel hypoplasia, Failure to thrive, Alope... OMIM:277440
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia OMIM:600785
Schimmelpenning-Feuerstein-Mims Syndrome
Alopecia, Abnormality of dental color, Kyphoscoliosis OMIM:163200
Congenital Muscular Dystrophy Due To Lmna Mutation
Spinal rigidity, Cachexia, Hyperlordosis ORPHA:157973
Keutel Syndrome
Alopecia ORPHA:85202
Cardiocranial Syndrome, Pfeiffer Type
Sparse hair, Abnormal hair whorl ORPHA:2872
Cerebellar-Facial-Dental Syndrome
Short neck, Sparse eyebrow, Dental malocclusion, Alveolar ridge overgrowth, Fine hair, Taurodonti... ORPHA:444072
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Failure to thrive, Distichiasis, High palate, Hyperlordosis OMIM:600462
Distal Deletion 19P
Cleft palate, Alopecia, Short philtrum, Thick eyebrow ORPHA:96129
Craniofrontonasal Syndrome
Ridged nail, Curly hair, Split nail, Telecanthus, Cleft upper lip, Abnormality of the dentition, ... OMIM:304110
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Orofaciodigital Syndrome Xv
Lobulated tongue, Midline notch of upper alveolar ridge OMIM:617127
Juvenile Sialidosis Type 2
Protruding tongue, Gingival overgrowth, Abnormal form of the vertebral bodies, Generalized hypert... ORPHA:93399
Isaacs Syndrome
Weight loss ORPHA:84142
Cleidocranial Dysplasia
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Open ... ORPHA:1452
Frontorhiny
Epicanthus, Lumbar hyperlordosis, Widow's peak, Cleft palate, Scoliosis, Bifid tongue, Ptosis ORPHA:391474
Christianson Syndrome
Cachexia, Thick eyebrow ORPHA:85278
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Abnormality of the dentition, Downturned corners of mouth, Coarse hair, Platyspondyly, Nail dyspl... OMIM:612394
Reticular Dysgenesis
Failure to thrive, Weight loss, Malabsorption ORPHA:33355
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Short nail, Bilateral ptosis, Widely spaced teeth, Long eyelashes, Thick vermilion border, Narrow... ORPHA:324540
Galloway-Mowat Syndrome 9
Coarse hair OMIM:619603
Barber-Say Syndrome
Delayed eruption of teeth, Telecanthus, Absent nipple, Sparse eyelashes, Ectropion, Sparse eyebro... OMIM:209885
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Synophrys, Long eyelashes, Hypertrichosis OMIM:619983
Kleefstra Syndrome 1
Natal tooth, Protruding tongue, Persistence of primary teeth, Synophrys, Obesity, Upslanted palpe... OMIM:610253
Hutchinson-Gilford Progeria Syndrome
Alopecia OMIM:176670
Au-Kline Syndrome
Ptosis, Failure to thrive, Sacral dimple, Thoracolumbar scoliosis, Supernumerary nipple, Lagophth... OMIM:616580
Neurodevelopmental Disorder With Spasticity And Poor Growth
Epicanthus, Tented upper lip vermilion, High, narrow palate, Synophrys, Nail pits, Long eyelashes... OMIM:618076
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Cachexia, Short neck, Short philtrum, Scoli... ORPHA:371364
S-Adenosylhomocysteine Hydrolase Deficiency
Failure to thrive, Abnormality of the dentition, Abnormality of hair texture ORPHA:88618
Solar Urticaria
Abnormal lip morphology, Abnormal tongue morphology ORPHA:97230
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Thick hair, Carious teeth, Coarse hair, High palate, Long philtrum, Sparse hair, Failure to thriv... ORPHA:357074
Hajdu-Cheney Syndrome
Short neck, Synophrys, Low anterior hairline, Downturned corners of mouth, Coarse hair, Periodont... ORPHA:955
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Protruding tongue, Obesity, Wide mouth, Widely spaced teeth, Scoliosis ORPHA:98794
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia, Abnormal palate morphology, Long philtrum ORPHA:1389
Cranioectodermal Dysplasia 3
Telecanthus, Short nail, Broad nail, Fine hair, Hypoplasia of teeth, Widely spaced teeth, Everted... OMIM:614099
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypoplastic toenails, Synophrys, Downturned corners of mouth, Glossoptosis, High palate, Abnormal... ORPHA:444077
Marshall Syndrome
Sparse eyelashes, Abnormality of the dentition, Sparse eyebrow, Thick lower lip vermilion, Cleft ... ORPHA:560
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Sparse hair, Hirsutism OMIM:618087
Hypoglossia With Situs Inversus
Microglossia, High palate, Hypodontia, Narrow mouth OMIM:612776
Hawkinsinuria
Sparse hair OMIM:140350
Autoimmune Polyendocrinopathy Type 1
Alopecia, Abnormal fingernail morphology ORPHA:3453
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Epicanthus, Highly arched eyebrow, Short neck, Deep philtrum, Fine hair, Low posterior hairline, ... OMIM:613563
Lacrimoauriculodentodigital Syndrome 3
Absent lacrimal punctum, Epicanthus, Absent eyelashes, Carious teeth, Xerostomia, Lacrimal duct a... OMIM:620193
Intellectual Developmental Disorder, Autosomal Dominant 65
Sparse hair, Synophrys, Thin eyebrow, Low posterior hairline OMIM:619320
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Smooth philtrum, Laterally extended eyebrow, Synophrys, Tented philtrum, Low anterior hairline, K... OMIM:618479
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Thin upper lip vermilion, Cleft palate, Shallow orbits, Long eyelashes, Scoliosis, Narrow mouth, ... OMIM:601353
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Acrofrontofacionasal Dysostosis 1
Long eyebrows, Cleft upper lip, Widow's peak, Cleft palate, Wide mouth, Oligodontia, Long eyelash... OMIM:201180
Immunodeficiency, Common Variable, 10
Pyloric stenosis, Trachyonychia, Alopecia totalis OMIM:615577
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue atrophy, Tongue fasciculations, Scoliosis, Hyperlordosis OMIM:620285
Facioscapulohumeral Muscular Dystrophy 1
Tongue atrophy OMIM:158900
Nasopalpebral Lipoma-Coloboma Syndrome
Lipomas of eyelids, Telecanthus, Abnormal eyelash morphology, Sparse eyebrow, Widow's peak, Hamar... ORPHA:2399
Chromosome Xq27.3-Q28 Duplication Syndrome
Sparse body hair OMIM:300869
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse scalp hair, Epicanthus, Tented upper lip vermilion, Exaggerated cupid's bow, Sparse eyebro... ORPHA:464738
Agel Amyloidosis
Tongue atrophy, Bilateral ptosis, Xerostomia, Keratoconjunctivitis sicca, Blepharochalasis, Nail ... ORPHA:85448
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal eyelid morphology, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormal verteb... ORPHA:2273
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Sparse eyelashes, Sparse eyebrow, Thick vermilion border, Small nail, Sparse hair, High anterior ... OMIM:250410
Hirschsprung Disease
Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Failure to thrive in infancy... ORPHA:388
Congenital Disorder Of Glycosylation, Type Iib
Thoracic scoliosis, High palate, Long eyelashes, Blepharophimosis, Short palpebral fissure OMIM:606056
Schwartz-Jampel Syndrome
Short neck, Low anterior hairline, High palate, Generalized hirsutism, Long philtrum, Pursed lips... ORPHA:800
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Selective tooth agenesis, Xerostomia, Anteriorly placed anus, Microdonti... OMIM:604292
Eec Syndrome
Entropion, Slow-growing hair, Abnormal dental enamel morphology, Sparse eyebrow, Carious teeth, X... ORPHA:1896
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Short neck, Bilateral cleft lip and palate, Upslanted palpebral fissure, ... ORPHA:2001
Pelvis-Shoulder Dysplasia
Lumbar hyperlordosis, Microglossia, Prominent protruding coccyx, Cleft palate, Abnormal form of t... ORPHA:2839
Orofaciodigital Syndrome Iv
Epicanthus, Hamartoma of tongue, Accessory oral frenulum, Cleft palate, Lobulated tongue, High pa... OMIM:258860
Lamellar Ichthyosis
Sparse hair, Abnormality of the nail, Aplasia/Hypoplasia of the eyebrow ORPHA:313
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, High palate, Thick v... OMIM:618106
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Long eyelashes, Ptosis OMIM:619076
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Fine hair, Tooth agenesis, Narrow palpebral fissure, Truncal obesity, Scoliosis, Microdontia, Dow... ORPHA:2637
Trisomy 8Q
Short neck, Non-midline cleft lip, Cleft palate, Orofacial cleft, Upslanted palpebral fissure, Ab... ORPHA:1752
Hemochromatosis, Type 1
Alopecia OMIM:235200
Oculocutaneous Albinism Type 3
Red hair, Generalized hypopigmentation of hair, White eyelashes, White eyebrow ORPHA:79433
Ring Chromosome 22 Syndrome
Epicanthus, Protruding tongue, Thick vermilion border, Toenail dysplasia, Thick eyebrow ORPHA:1446
Fryns-Smeets-Thiry Syndrome
Cachexia, Thick lower lip vermilion, Wide mouth, Downturned corners of mouth, Everted lower lip v... ORPHA:2058
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Glossoptosis, Failure to thrive, Cleft palate OMIM:618356
Developmental And Epileptic Encephalopathy 80
Tented upper lip vermilion, Protruding tongue, Wide mouth, Upslanted palpebral fissure, High pala... OMIM:618580
Congenital Disorder Of Glycosylation, Type Iie
Protruding tongue, Short neck, Low anterior hairline, Upslanted palpebral fissure, Thick vermilio... OMIM:608779
Alexander Disease Type I
Failure to thrive, Scoliosis, Cachexia ORPHA:363717
46,Xy Sex Reversal 6
Hirsutism, Sparse axillary hair OMIM:613762
Neu-Laxova Syndrome
Abnormality of the philtrum, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology,... ORPHA:2671
Dubowitz Syndrome
Hypoplastic toenails, Rectal prolapse, Low anterior hairline, High palate, Spina bifida occulta, ... ORPHA:235
19P13.13 Microdeletion Syndrome
Thin upper lip vermilion, Epicanthus, Macroglossia, High palate, Long eyelashes, Narrow mouth, Do... ORPHA:357001
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Charcot-Marie-Tooth Disease, Type 4C
Tongue atrophy, Tongue fasciculations, Scoliosis OMIM:601596
Leukocyte Adhesion Deficiency Type Ii
Severe periodontitis, Palpebral edema, Small for gestational age, Protruding tongue, Deep philtru... ORPHA:99843
Mulibrey Nanism
Cachexia ORPHA:2576
Mgat2-Cdg
Dental crowding, Kyphosis, Long eyelashes, Hypoplastic nipples, Scoliosis, Open mouth, Failure to... ORPHA:79329
Gm1-Gangliosidosis, Type Ii
Protruding tongue, Gingival overgrowth, Hypoplastic vertebral bodies, Platyspondyly, Scoliosis, N... OMIM:230600
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Atrophic muscularis propria, Weight loss, Abnormality of the extraocular muscles, Ptosis ORPHA:298
Lymphedema-Distichiasis Syndrome
Ectropion, Cleft upper lip, Yellow nails, Kyphosis, Cleft palate, Conjunctivitis, Distichiasis, P... OMIM:153400
Joubert Syndrome 18
Lobulated tongue, Kyphoscoliosis, Cleft palate OMIM:614815
H Syndrome
Abnormal eyebrow morphology, Alopecia, Cleft upper lip, Malabsorption, Gingival overgrowth, Upper... ORPHA:168569
Graves Disease, Susceptibility To, 1
Onycholysis, Weight loss OMIM:275000
Ritscher-Schinzel Syndrome 2
Intestinal malrotation, Protruding tongue, Low posterior hairline, Upslanted palpebral fissure, H... OMIM:300963
Orofaciodigital Syndrome Type 6
Epicanthus, Failure to thrive, Hamartoma of tongue, Highly arched eyebrow, Cleft palate, Midline ... ORPHA:2754
Coffin-Siris Syndrome
Delayed eruption of teeth, Sparse scalp hair, Thick eyebrow, Thin upper lip vermilion, Ptosis, Hy... ORPHA:1465
Cerebrooculofacioskeletal Syndrome 2
Sparse hair OMIM:610756
Cerebellofaciodental Syndrome
Short neck, Sparse eyebrow, Dental malocclusion, Fine hair, Taurodontia, Scoliosis, Macrodontia o... OMIM:616202
Xp22.13P22.2 Duplication Syndrome
Sparse hair, High anterior hairline ORPHA:284180
Rothmund-Thomson Syndrome Type 2
Delayed eruption of teeth, Small for gestational age, Alopecia totalis, Abnormal dental enamel mo... ORPHA:221016
Omphalocele Syndrome, Shprintzen-Goldberg Type
Thin upper lip vermilion, Telecanthus, Abnormal eyelash morphology, Downturned corners of mouth, ... ORPHA:3164
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Short neck, Hemivertebrae, Thoracic hemivertebrae, V... OMIM:268310
Fontaine Progeroid Syndrome
High, narrow palate, Synophrys, Low anterior hairline, Anteriorly placed anus, Coarse hair, Oligo... OMIM:612289
Tarp Syndrome
Failure to thrive, Abnormal hair pattern, Pierre-Robin sequence, Alveolar ridge overgrowth, Cleft... ORPHA:2886
Multiple Sulfatase Deficiency
Coarse hair, Thick eyebrow ORPHA:585
Adrenoleukodystrophy
Alopecia OMIM:300100
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Rabson-Mendenhall Syndrome
Dental crowding, Thick hair, Onychauxis, Abnormality of the dentition, Low anterior hairline, Gin... ORPHA:769
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Epicanthus, Sclerotic vertebral body, Tented upper lip vermilion, Kyphosis, Platyspondyly, Long e... OMIM:618476
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Alopecia ORPHA:412057
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, Short neck, Kyphosis, Hemivertebrae, Tracheoesophageal fistula,... ORPHA:958
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Dental crowding, Highly arched eyebrow, Kyphosis, High palate, Thick vermilion border, Long eyela... OMIM:619005
Huntington Disease-Like 2
Weight loss OMIM:606438
Hereditary Acrokeratotic Poikiloderma
Premature loss of primary teeth, Abnormality of the dentition, Open bite, Xerostomia, Gingivitis,... ORPHA:2907
Okur-Chung Neurodevelopmental Syndrome
Thin upper lip vermilion, Epicanthus, Highly arched eyebrow, Protruding tongue, Synophrys, High p... OMIM:617062
Mullegama-Klein-Martinez Syndrome
Thin upper lip vermilion, Curly eyelashes, Cleft lip, Low anterior hairline, Cleft palate, Submuc... OMIM:301022
Congenital Ptosis
Unilateral ptosis, Congenital Horner syndrome, Telecanthus, Epicanthus inversus, Piebaldism, Cong... ORPHA:91411
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Sparse hair OMIM:620001
Robinow Syndrome, Autosomal Recessive 2
Cleft soft palate, Abnormality of the dentition, Gingival overgrowth, Long eyelashes, Long philtr... OMIM:618529
Kleefstra Syndrome Due To 9Q34 Microdeletion
Highly arched eyebrow, Protruding tongue, Synophrys, Obesity, Downturned corners of mouth, Macrog... ORPHA:96147
Noonan Syndrome 10
Curly hair, Epicanthus, Short neck, Sparse eyebrow, High palate, Scoliosis, Downslanted palpebral... OMIM:616564
Wiedemann-Rautenstrauch Syndrome
Short neck, Downturned corners of mouth, Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebr... OMIM:264090
Otospondylomegaepiphyseal Dysplasia
Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Cleft palate, Glossoptosis, Coro... ORPHA:1427
Immunodeficiency 7
Failure to thrive, Patchy alopecia OMIM:615387
Rothmund-Thomson Syndrome Type 1
Delayed eruption of teeth, Small for gestational age, Alopecia totalis, Abnormal dental enamel mo... ORPHA:221008
Yao Syndrome
Keratoconjunctivitis sicca, Xerostomia, Oral ulcer, Weight loss OMIM:617321
Moebius Syndrome
Epicanthus, Aplasia/Hypoplasia of the tongue, Cleft palate, Tooth agenesis, High palate, Breast a... ORPHA:570
Dyskeratosis Congenita, X-Linked
Ridged nail, Split nail, Alopecia, Sparse eyelashes, Carious teeth, Esophageal stricture, Pterygi... OMIM:305000
Birk-Landau-Perez Syndrome
Camptocormia, Failure to thrive in infancy, Upslanted palpebral fissure, Long eyelashes, Ptosis OMIM:617595
Coffin-Lowry Syndrome
Telecanthus, Highly arched eyebrow, Kyphosis, Rectal prolapse, Thick lower lip vermilion, Dental ... OMIM:303600
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Fine hair, Premature graying of hair, Intestinal bleeding, Nail dystrophy, Nail dysplasia, Scolio... OMIM:612199
Cornelia De Lange Syndrome 1
Short neck, High, narrow palate, Synophrys, Downturned corners of mouth, Widely spaced teeth, Hig... OMIM:122470
Mohr Syndrome
Telecanthus, Median cleft lip, Accessory oral frenulum, Cleft palate, Tongue nodules, Lobulated t... OMIM:252100
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Pseudomyxoma Peritonei
Intestinal obstruction, Weight loss, Inflammation of the large intestine ORPHA:26790
Phelan-Mcdermid Syndrome
Epicanthus, Sacral dimple, Palpebral edema, Hypoplastic toenails, Dental malocclusion, High palat... OMIM:606232
Robinow Syndrome
Dental crowding, Hemivertebrae, Orofacial cleft, Fused thoracic vertebrae, Persistence of primary... ORPHA:97360
Carey-Fineman-Ziter Syndrome 1
Epicanthus, Lagophthalmos, Spinal rigidity, Pierre-Robin sequence, Cleft palate, Glossoptosis, Hi... OMIM:254940
Developmental And Epileptic Encephalopathy 49
Tented upper lip vermilion, Long eyelashes, Short philtrum, Everted lower lip vermilion, Open mou... OMIM:617281
Cutis Laxa, Autosomal Recessive, Type Iiib
Pyloric stenosis, Fine hair, Narrow palpebral fissure, Thin vermilion border, Sparse hair OMIM:614438
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, Patchy alopecia, Failure to thrive in infancy, Alopecia universalis OMIM:606367
Seckel Syndrome 2
Microdontia, Microglossia, Small for gestational age OMIM:606744
Mandibuloacral Dysplasia With Type A Lipodystrophy
Sparse scalp hair, Alopecia, Dental crowding, Hypoplasia of teeth, High palate, Premature loss of... OMIM:248370
Polyendocrine-Polyneuropathy Syndrome
Alopecia ORPHA:453533
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia, Failure to thrive OMIM:210210
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Epicanthus, Abnormality of hair texture, Hyperlordosis, Synophrys, Hypoplastic sweat glands, Dent... ORPHA:73223
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
White hair, Fine hair ORPHA:935
Chime Syndrome
Epicanthus, Abnormal dental morphology, Abnormality of the dentition, Supernumerary tooth, Cleft ... ORPHA:3474
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Sparse body hair ORPHA:2234
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Selective tooth agenesis, Xerostomia, Oligodontia, Sparse hair, Microdon... OMIM:129900
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Sparse hair OMIM:268020
8P23.1 Microdeletion Syndrome
Epicanthus, Short neck, Obesity, Weight loss, Upslanted palpebral fissure, Thin vermilion border,... ORPHA:251071
Omenn Syndrome
Alopecia, Failure to thrive OMIM:603554
Ablepharon Macrostomia Syndrome
Absent eyebrow, Ablepharon, Abnormal hair pattern, Absent eyelashes, Fine hair, Wide mouth, Thin ... ORPHA:920
Intellectual Developmental Disorder, Autosomal Dominant 66
Sparse hair OMIM:619910
Cousin Syndrome
Short neck, Low anterior hairline, Alveolar ridge overgrowth, Cleft palate, Prominent protruding ... OMIM:260660
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormal eyelash morphology, Scoliosis ORPHA:2518
Insulin-Resistance Syndrome Type B
Alopecia, Abnormality of body weight, Increased body weight, Weight loss, Decreased body weight, ... ORPHA:2298
Orofaciodigital Syndrome Type 2
Natal tooth, Telecanthus, Median cleft lip, Thick hair, Hamartoma of tongue, Unilateral alveolar ... ORPHA:2751
Xeroderma Pigmentosum
Conjunctival telangiectasia, Alopecia, Entropion, Abnormality of the dentition, Ankyloblepharon, ... ORPHA:910
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Epicanthus, Telecanthus, Lumbar hyperlordosis, Thick hair, Short neck, Lumbar kyphosis, Macroglos... ORPHA:505248
Mixed Connective Tissue Disease
Keratoconjunctivitis sicca, Alopecia, Xerostomia, Gastritis ORPHA:809
Trichorhinophalangeal Syndrome, Type Iii
Sparse hair, Sparse lateral eyebrow OMIM:190351
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Volvulus, Long eyelashes OMIM:617802
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormality of the tongue, Weight loss ORPHA:216866
Linear Nevus Sebaceus Syndrome
Alopecia, Telecanthus, Vertebral segmentation defect ORPHA:2612
Laryngotracheoesophageal Cleft Type 4
Abnormal form of the vertebral bodies, Tracheoesophageal fistula, Cachexia, Intestinal atresia ORPHA:93941
Hypoglossia-Hypodactylia
Microglossia, Aglossia, Narrow mouth OMIM:103300
Pediatric Systemic Lupus Erythematosus
Alopecia, Oral ulcer ORPHA:93552
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... ORPHA:94068
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Dental crowding, Short neck, Orofacial cleft, Downturned corners of mouth... OMIM:180700
Distal Deletion 12Q
Telecanthus, Median cleft lip, Failure to thrive in infancy, Kyphoscoliosis, Short neck, High, na... ORPHA:96149
Focal Dermal Hypoplasia
Alopecia, Abnormal dental morphology, Abnormal dental enamel morphology, Abnormality of the denti... ORPHA:2092
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Alopecia, Gastritis, Failure to thrive in infancy, Cachexia, Malabsorption, Ileus, Colitis, Abnor... ORPHA:37042
Acrocallosal Syndrome
Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,... OMIM:200990
Cerebrooculonasal Syndrome
Epicanthus, Sparse eyelashes, Sparse eyebrow, Narrow palate, Cleft palate, Downturned corners of ... OMIM:605627
Ctcf-Related Neurodevelopmental Disorder
Thin upper lip vermilion, Epicanthus, Sacral dimple, Small for gestational age, Highly arched eye... ORPHA:363611
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Downturned corners of mouth, Telecanthus, Cachexia ORPHA:2774
Juvenile Huntington Disease
Weight loss ORPHA:248111
Zttk Syndrome
Curly hair, Epicanthus, Abnormality of the dentition, Sparse eyebrow, Kyphosis, Submucous cleft h... OMIM:617140
Myhre Syndrome
Thin upper lip vermilion, Vertebral fusion, Small for gestational age, Blepharophimosis, Short ne... OMIM:139210
Menke-Hennekam Syndrome 1
Thin upper lip vermilion, Everted upper lip vermilion, Epicanthus, Telecanthus, Blepharophimosis,... OMIM:618332
Leishmaniasis
Weight loss, Abnormal oral mucosa morphology, Abnormal oral cavity morphology ORPHA:507
Waardenburg Syndrome, Type 4C
White eyelashes, Aganglionic megacolon, White eyebrow, Premature graying of hair, Lacrimal gland ... OMIM:613266
Hypoglossia-Hypodactyly Syndrome
Telecanthus, Abnormal fingernail morphology, Aplasia/Hypoplasia of the tongue, Jejunal atresia, C... ORPHA:989
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Delayed eruption of teeth, Ptosis, Telecanthus, Epicanthus, Highly arched eyebrow, Large for gest... OMIM:280000
Noonan Syndrome 2
Curly hair, Epicanthus, Short neck, Sparse eyebrow, Low posterior hairline, High palate, Downslan... OMIM:605275
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Alopecia, Cleft upper lip, Stillbirth, Scoliosis, Small nail, Vertebral hypoplasia OMIM:308050
Genitopatellar Syndrome
Sparse scalp hair, Hip contracture, Knee flexion contracture, Fine hair, Arthrogryposis multiplex... ORPHA:85201
Poems Syndrome
Weight loss, Sclerotic vertebral endplates, Leukonychia, Hypertrichosis ORPHA:2905
Nijmegen Breakage Syndrome
Abnormal hair quantity, Anal stenosis, Cachexia, Abnormal eyelid morphology, Abnormal hair morpho... ORPHA:647
Pontocerebellar Hypoplasia, Type 1B
Tongue atrophy, Tongue fasciculations OMIM:614678
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Sparse hair, Hyperconvex nail OMIM:619721
Encephalocraniocutaneous Lipomatosis
Limbal dermoid, Alopecia, Eyelid coloboma OMIM:613001
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Epicanthus, Malabsorption, Protruding tongue, Macroglossia, Failure to thrive OMIM:242860
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Sparse hair, Nail dystrophy ORPHA:98813
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cleft palate, Furrowed tongue, Downturned corners of mouth, Macroglossia, Oligodontia, Vertebral ... ORPHA:453499
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Malabsorption, Orofacial cleft, Wei... ORPHA:92050
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Microglossia, Aplasia/Hypoplasia of the eyebrow, Narrow mouth ORPHA:990
Tarp Syndrome
Failure to thrive, Cleft palate, Tongue nodules, Glossoptosis, High palate, Neonatal death, Mecke... OMIM:311900
Joubert Syndrome 37
Sparse hair OMIM:619185
Scalp-Ear-Nipple Syndrome
Epicanthus, Telecanthus, Palpebral edema, Sparse axillary hair, Blepharophimosis, Sparse pubic ha... OMIM:181270
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Weight loss OMIM:191390
Koolen-De Vries Syndrome Due To A Point Mutation
Alopecia, Epicanthus, Abnormal dental morphology, Small for gestational age, Sacral dimple, Hyper... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Alopecia, Epicanthus, Abnormal dental morphology, Small for gestational age, Sacral dimple, Hyper... ORPHA:363958
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Small for gestational age, Alopecia totalis OMIM:618775
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Sparse hair OMIM:614105
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dry hair, Low anterior hairline OMIM:618569
Glossopharyngeal Neuralgia
Abnormality of the cervical spine, Tongue pain, Abnormal palate morphology, Weight loss ORPHA:221098
Smith-Lemli-Opitz Syndrome
Short neck, Abnormal form of the vertebral bodies, Advanced eruption of teeth, Abnormal dental mo... ORPHA:818
Treacher Collins Syndrome 1
Sparse lower eyelashes, Cleft soft palate, Lacrimal duct stenosis, Upper eyelid coloboma, Cleft p... OMIM:154500
Chilton-Okur-Chung Neurodevelopmental Syndrome
Hooded eyelid, Synophrys, Low anterior hairline, Short philtrum, Widely spaced teeth, Sparse hair... OMIM:619841
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Short neck, Weight loss ORPHA:1842
Leukonychia Totalis
Abnormal eyelash morphology, Abnormal toenail morphology, Abnormal fingernail morphology, Blephar... ORPHA:2387
Oromandibular Dystonia
Blepharospasm, Abnormal lip morphology, Weight loss ORPHA:93958
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Ectropion of lower eyelids, Oligodontia, Eyelid coloboma, Widely spaced teet... OMIM:615873
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Abnormality of hair texture ORPHA:79351
Lymphedema-Distichiasis Syndrome
Ectropion, Cleft upper lip, Cleft palate, Conjunctivitis, Distichiasis, Ptosis ORPHA:33001
Mitochondrial Complex I Deficiency, Nuclear Type 33
Sparse hair OMIM:618253
Chromosome 5P13 Duplication Syndrome
Sparse hair, Low posterior hairline OMIM:613174
Dihydropyrimidine Dehydrogenase Deficiency
Delayed eruption of teeth, Short nail, Short neck, Deep philtrum, High palate, Long eyelashes, Pa... ORPHA:1675
Melnick-Needles Syndrome
Delayed eruption of teeth, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Frontal hirs... OMIM:309350
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Alopecia, Alopecia totalis, Nail dystrophy, Failure to thrive, Abnormality of the periungual region ORPHA:293978
Central Diabetes Insipidus
Failure to thrive, Weight loss ORPHA:178029
Agnathia-Otocephaly Complex
Aglossia, Cleft palate, Narrow mouth, Microglossia, Downslanted palpebral fissures OMIM:202650
Aymé-Gripp Syndrome
Sparse scalp hair, Thin upper lip vermilion, Bilateral ptosis, Cleft palate, Shallow orbits, Upsl... ORPHA:1272
Jacobsen Syndrome
Epicanthus, Telecanthus, Short neck, Abnormal eyelash morphology, Pyloric stenosis, Nasolacrimal ... OMIM:147791
Weaver Syndrome
Deep-set nails, Epicanthus, Thin nail, Kyphosis, Fine hair, Scoliosis, Long philtrum, Sparse hair... OMIM:277590
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Abdominal obesity, Increased body weight, Hirsutism ORPHA:189427
Mucolipidosis Type Ii
Dry hair, Epicanthus, Kyphosis, White hair, Gingival overgrowth, Fine hair, Weight loss, Shallow ... ORPHA:576
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Absent eyebrow, Alopecia, Subungual hyperkeratosis, Sparse scalp hair, Aganglionic megacolon, Abs... OMIM:308205
Mulibrey Nanism
Dental crowding, Dental malocclusion, Hypodontia, Microglossia, Enamel hypoplasia OMIM:253250
Riboflavin Transporter Deficiency
Cachexia, Ptosis ORPHA:97229
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Malabsorption, Enter... ORPHA:95427
Papillon-Lefèvre Syndrome
Abnormal fingernail morphology, Nail dystrophy, Abnormality of the nail, Sparse body hair, Genera... ORPHA:678
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Abnormal sacroiliac joint morphology, Weight loss, Inflammation of the large intestine, Scoliosis... ORPHA:324964
Oculogastrointestinal Muscular Dystrophy
Spontaneous esophageal perforation, Intestinal pseudo-obstruction, Cachexia, Malabsorption, Abnor... ORPHA:1876
Pemphigus Vulgaris
Weight loss, Abnormal oral cavity morphology ORPHA:704
Autosomal Dominant Epidermolytic Ichthyosis
Conjunctival hamartoma, Weight loss ORPHA:312
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Hamartoma of tongue, Sparse eyebrow, Cleft lip, Cleft palate, Incomplete cleft of th... OMIM:616300
Myopathy, Myofibrillar, 7
Tongue atrophy, Lumbar hyperlordosis, Spinal rigidity, Thoracic kyphosis, Scoliosis OMIM:617114
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Vertebral segmen... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Vertebral segmen... ORPHA:352665
Raine Syndrome
Natal tooth, Highly arched eyebrow, Protruding tongue, Short neck, Gingival overgrowth, Cleft pal... OMIM:259775
Borjeson-Forssman-Lehmann Syndrome
Sparse hair, Thick eyebrow ORPHA:127
Ruijs-Aalfs Syndrome
Premature graying of hair, Sparse hair OMIM:616200
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Hypoplasia of eyelid, Intestinal malrotation, Cleft soft palate, Downturned corners of ... OMIM:619321
Holocarboxylase Synthetase Deficiency
Alopecia OMIM:253270
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Melkersson-Rosenthal Syndrome
Macroglossia, Cheilitis, Furrowed tongue ORPHA:2483
Adrenocortical Carcinoma
Weight loss, Increased body weight, Hypertrichosis ORPHA:1501
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Absent eyebrow, Thin fingernail, Abnormal dental morphology, Abnormal dental enamel morphology, A... ORPHA:85199
Cranioectodermal Dysplasia 1
Epicanthus, Telecanthus, Slow-growing hair, Short nail, Thin nail, High, narrow palate, Fine hair... OMIM:218330
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Thin upper lip vermilion, Epicanthus, Small for gestational age, Tracheoesophageal fistula, High ... OMIM:277380
Spinocerebellar Ataxia 36
Tongue atrophy, Tongue fasciculations, Ptosis OMIM:614153
Holzgreve Syndrome
Abnormally ossified vertebrae, Bifid tongue, Aplasia/Hypoplasia of the tongue, Cleft palate ORPHA:2167
7Q11.23 Microduplication Syndrome
Thin upper lip vermilion, Sacral dimple, Short lingual frenulum, Short neck, Diastema, Sparse ant... ORPHA:96121
Follicular Lymphoma
Weight loss ORPHA:545
Coffin-Siris Syndrome 1
Dry hair, Conical tooth, Short philtrum, High palate, Microdontia, Spina bifida occulta, Scoliosi... OMIM:135900
Pleural Mesothelioma
Weight loss ORPHA:50251
Leigh Syndrome
Alopecia, Hypertrichosis, Frontal hirsutism, Failure to thrive, Ptosis ORPHA:506
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Smooth philtrum, Epicanthus, Lumbar hyperlordosis, Cleft lip, Widow's peak, Furrowed tongue, Upsl... OMIM:616975
Angelman Syndrome
Protruding tongue, Obesity, Wide mouth, Widely spaced teeth, Scoliosis, Fair hair, Ptosis ORPHA:72
Meier-Gorlin Syndrome 1
Small for gestational age, Hyperconvex nail, Blepharophimosis, Hemivertebrae, Cleft palate, High ... OMIM:224690
Brown-Vialetto-Van Laere Syndrome 1
Tongue atrophy, Kyphosis, Tongue fasciculations, Scoliosis, Ptosis OMIM:211530
Cranioectodermal Dysplasia 2
Unilateral ptosis, Epicanthus, Telecanthus, Sparse eyelashes, Blepharophimosis, Sparse eyebrow, S... OMIM:613610
Thymic Carcinoma
Palpebral edema, Weight loss ORPHA:99868
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Cachexia, Ileus, Open mouth, Ptosis ORPHA:52503
Woodhouse-Sakati Syndrome
Sparse hair, Alopecia, Anodontia, Fine hair OMIM:241080
Cap Polyposis
Atrophic gastritis, Colorectal polyposis, Weight loss ORPHA:160148
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Halperin-Birk Syndrome
High palate, Thick vermilion border, Failure to thrive, Long eyelashes OMIM:618651
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Melanonychia, Epicanthus, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Ab... ORPHA:2526
Biotinidase Deficiency
Alopecia, Conjunctivitis OMIM:253260
Rubinstein-Taybi Syndrome 1
Dental crowding, High, narrow palate, Low anterior hairline, High palate, Frontal hirsutism, Spin... OMIM:180849
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Broad eyebrow, Short neck, Sparse eyebrow, Synophrys, Tented philtrum, Low anterior hairline, Ant... ORPHA:495875
Congenital Sialidosis Type 2
Protruding tongue, Gingival overgrowth, Generalized hypertrichosis ORPHA:93400
Juvenile Dermatomyositis
Alopecia, Palpebral edema, Weight loss ORPHA:93672
Spinocerebellar Ataxia Type 36
Tongue atrophy, Tongue fasciculations, Ptosis ORPHA:276198
Systemic Sclerosis
Abnormal small intestine morphology, Alopecia, Barrett esophagus, Nail bed telangiectasia, Abnorm... ORPHA:90291
Autoimmune Polyendocrine Syndrome, Type Ii
Alopecia, Keratoconjunctivitis, Steatorrhea OMIM:269200
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Abnormal dental enamel morphology, Malabsorption, Weight loss, Long eye... ORPHA:79430
Hypomandibular Faciocranial Dysostosis
Aplasia/Hypoplasia of the tongue, Cleft palate, Upslanted palpebral fissure, Narrow mouth, Downsl... ORPHA:1790
Developmental And Epileptic Encephalopathy 31B
Protruding tongue, Almond-shaped palpebral fissure, Gingival overgrowth, Long palpebral fissure, ... OMIM:620352
Cutis Laxa, Autosomal Recessive, Type Iiia
Sparse hair OMIM:219150
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Khan-Khan-Katsanis Syndrome
Sacral dimple, Tented upper lip vermilion, Trichiasis, Highly arched eyebrow, Epiblepharon, Scoli... OMIM:618460
Atypical Werner Syndrome
Abnormal hair quantity, Alopecia, Failure to thrive, Abnormal hair morphology, Abnormal hair whor... ORPHA:79474
Huntington Disease
Decreased body mass index, Weight loss ORPHA:399
Ectodermal Dysplasia And Immunodeficiency 1
Sparse hair, Aplasia of the eccrine sweat glands OMIM:300291
Mast Cell Sarcoma
Weight loss ORPHA:66661
Generalized Pustular Psoriasis
Overweight, Cheilitis, Obesity, Geographic tongue, Abnormality of the nail ORPHA:247353
Contractures-Developmental Delay-Pierre Robin Syndrome
Thoracolumbar scoliosis, High, narrow palate, Cleft palate, Glossoptosis, Downslanted palpebral f... ORPHA:436003
Reactive Arthritis
Weight loss, Inflammation of the large intestine, Conjunctivitis, Recurrent aphthous stomatitis, ... ORPHA:29207
Cowden Syndrome 5
Colonic diverticula, Kyphosis, Furrowed tongue, Hamartomatous polyposis, High palate, Scoliosis, ... OMIM:615108
Sting-Associated Vasculopathy, Infantile-Onset
Sparse hair, Nailfold capillary tortuosity, Nail dystrophy, Periungual erythema OMIM:615934
Pallister-Hall-Like Syndrome
Microglossia, Median cleft lip, Cleft palate OMIM:241800
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased body weight, Esophageal stenosis, Failure to thrive, Anal fissure, Carious teeth, Esoph... ORPHA:89842
Oculocerebrorenal Syndrome Of Lowe
Dental crowding, Deep philtrum, Gingivitis, Periodontitis, Abnormal dental enamel morphology, Ope... ORPHA:534
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Alopecia universalis ORPHA:363618
Imerslund-Gräsbeck Syndrome
Failure to thrive, Glossitis, Angular cheilitis, Weight loss ORPHA:35858
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Weight loss ORPHA:103910
Orofaciodigital Syndrome Vi
Epicanthus, Failure to thrive, Hamartoma of tongue, Accessory oral frenulum, Cleft upper lip, Cle... OMIM:277170
Ring Chromosome 13 Syndrome
Alopecia, Epicanthus, Short neck, High palate, Short philtrum, Anal atresia, Abnormality of the i... ORPHA:96176
Scarf Syndrome
Sparse hair, Hypoplastic nipples, Low posterior hairline ORPHA:3134
Noonan Syndrome
Abnormal hair quantity, Thick lower lip vermilion, Low posterior hairline, Coarse hair, High pala... ORPHA:648
Lenz-Majewski Hyperostotic Dwarfism
Lacrimal duct stenosis, Abnormality of the dentition, Microglossia, Hemivertebrae, Cleft palate, ... OMIM:151050
Stuve-Wiedemann Syndrome 1
Pursed lips, Ovoid vertebral bodies, Short neck, Carious teeth, Thin vermilion border, Smooth ton... OMIM:601559
Degcags Syndrome
Synophrys, Low anterior hairline, Premature graying of hair, High palate, Hiatus hernia, Abnormal... OMIM:619488
Rett Syndrome
Kyphosis, Scoliosis, Cachexia, Abnormality of the dentition OMIM:312750
Stickler Syndrome
Epicanthus, Telecanthus, Slender build, Abnormal dental enamel morphology, Cachexia, Cleft upper ... ORPHA:828
Adrenomyeloneuropathy
Back pain, Frontal balding, Intra-oral hyperpigmentation, Fine hair, Lip hyperpigmentation ORPHA:139399
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Epicanthus, Kyphoscoliosis, Protruding tongue, Diastema, Kyphosis, Thick lower lip vermilion, Hem... OMIM:301040
Distal 22Q11.2 Microdeletion Syndrome
Thin upper lip vermilion, Highly arched eyebrow, Hyperlordosis, High, narrow palate, Pyloric sten... ORPHA:261330
Developmental And Epileptic Encephalopathy 100
Tented upper lip vermilion, Protruding tongue, Thoracolumbar kyphosis, Synophrys, Gingival overgr... OMIM:619777
Short-Rib Thoracic Dysplasia 12
Natal tooth, Epicanthus, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Short nec... OMIM:269860
Costello Syndrome
Deep-set nails, Curly hair, Epicanthus, Thin nail, Concave nail, Short neck, Pyloric stenosis, Th... OMIM:218040
Huntington Disease-Like 1
Weight loss ORPHA:157941
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
Otopalatodigital Syndrome Type 2
Pierre-Robin sequence, Cleft palate, Glossoptosis, Oligodontia, Scoliosis, Narrow mouth, Abnormal... ORPHA:90652
Severe Generalized Junctional Epidermolysis Bullosa
Alopecia, Erosion of oral mucosa, Failure to thrive, Abnormal oral mucosa morphology, Paronychia,... ORPHA:79404
Silver-Russell Syndrome
Dental crowding, Failure to thrive in infancy, Cachexia, Obesity, Downturned corners of mouth, Th... ORPHA:813
Coffin-Siris Syndrome 12
Sparse scalp hair, Epicanthus, Highly arched eyebrow, Celiac disease, Synophrys, Velopharyngeal i... OMIM:619325
Cowden Syndrome 6
Colonic diverticula, Kyphosis, Furrowed tongue, Hamartomatous polyposis, High palate, Scoliosis, ... OMIM:615109
Catel-Manzke Syndrome
Cleft upper lip, Short neck, Pierre-Robin sequence, Nasolacrimal duct obstruction, Cleft palate, ... OMIM:616145
Malignant Peritoneal Mesothelioma
Ileus, Weight loss ORPHA:168811
Isolated Succinate-Coq Reductase Deficiency
Weight loss ORPHA:3208
Focal Myositis
Weight loss ORPHA:48918
Mucopolysaccharidosis Type 3
Thick hair, Abnormality of the dentition, Malabsorption, Synophrys, Abnormal form of the vertebra... ORPHA:581
Kabuki Syndrome 1
Anal stenosis, Intestinal malrotation, Highly arched eyebrow, Abnormality of the dentition, Spars... OMIM:147920
Perry Syndrome
Weight loss ORPHA:178509
Desmoplastic Small Round Cell Tumor
Ileus, Cachexia, Weight loss ORPHA:83469
Restrictive Dermopathy 1
Natal tooth, Entropion, Sparse eyelashes, Short nail, Kyphoscoliosis, Absent eyelashes, Sparse ey... OMIM:275210
Cornelia De Lange Syndrome
Short neck, Synophrys, Low anterior hairline, Downturned corners of mouth, Widely spaced teeth, H... ORPHA:199
Igg4-Related Aortitis
Low back pain, Intestinal obstruction, Weight loss ORPHA:449400
Wilson Disease
Back pain, Failure to thrive, Increased body weight, Weight loss ORPHA:905
Osteogenesis Imperfecta, Type Xx
Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow OMIM:618644
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Distichiasis OMIM:126320
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Blepharophimosis, Glossoptosis, Ptosis ORPHA:2031
Rhabdoid Tumor
Weight loss ORPHA:69077
Charcot-Marie-Tooth Disease Type 4B2
Tongue atrophy, Kyphoscoliosis, Scoliosis, Difficulty in tongue movements, Ptosis ORPHA:99956
Opitz Gbbb Syndrome
Natal tooth, Telecanthus, Cleft lip, Widow's peak, Tracheoesophageal fistula, Cleft palate, Verte... ORPHA:2745
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Alopecia, Hirsutism ORPHA:90795
Ménétrier Disease
Abnormal gastric mucosa morphology, Multiple gastric polyps, Weight loss, Stomach cancer, Giant h... ORPHA:2494
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Thin upper lip vermilion, Natal tooth, Absent nipple, Epicanthus, Thoracic scoliosis, Sparse eyeb... OMIM:620186
Encephalocraniocutaneous Lipomatosis
Abnormal eyelash morphology, Alopecia, Abnormal nasolacrimal system morphology, Abnormal eyelid m... ORPHA:2396
Autoimmune Polyendocrinopathy Type 4
Alopecia, Atrophic gastritis, Celiac disease, Xerostomia, Keratoconjunctivitis sicca ORPHA:227990
Pelizaeus-Merzbacher Disease
Kyphosis, Scoliosis, Failure to thrive in infancy, Cachexia ORPHA:702
Frontofacionasal Dysplasia
Telecanthus, Cleft upper lip, Ankyloblepharon, Orofacial cleft, Eyelid coloboma, S-shaped palpebr... OMIM:229400
Eosinophilic Gastroenteritis
Weight loss, Malabsorption, Protein-losing enteropathy, Steatorrhea ORPHA:2070
Autosomal Dominant Hypocalcemia
Alopecia, Abnormal fingernail morphology, Abnormality of the nail ORPHA:428
Takayasu Arteritis
Weight loss ORPHA:3287
Scarf Syndrome
Sparse hair, Low anterior hairline, Hypoplastic nipples, Low posterior hairline OMIM:312830
Majeed Syndrome
Weight loss, Failure to thrive, Cachexia, Malabsorption ORPHA:77297
Immunodeficiency 27A
Weight loss OMIM:209950
Localized Scleroderma
Abnormal skin adnexa morphology, Abnormality of the dentition, Dental malocclusion, Abnormal uppe... ORPHA:90289
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia, Kyphosis, Scoliosis, Short hard palate, Ptosis ORPHA:1969
Autoimmune Polyendocrinopathy Type 3
Alopecia, Atrophic gastritis, Celiac disease, Xerostomia, Keratoconjunctivitis sicca ORPHA:227982
Biotinidase Deficiency
Alopecia, Conjunctivitis ORPHA:79241
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Ankyloglossia, Scoliosis OMIM:619352
Hereditary Folate Malabsorption
Failure to thrive, Glossitis, Cheilitis ORPHA:90045
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Epicanthus, Long eyelashes, Cryptophthalmos, Long philtrum OMIM:615877
Restrictive Dermopathy
Natal tooth, Telecanthus, Entropion, Thoracic kyphoscoliosis, Short nail, Sparse eyebrow, Aplasia... ORPHA:1662
Distal Limb Deficiencies-Micrognathia Syndrome
Cleft palate, High palate, Narrow mouth, Microdontia, Microglossia ORPHA:1307
Cockayne Syndrome B
Dry hair, Small for gestational age, Delayed eruption of primary teeth, Abnormal hair morphology,... OMIM:133540
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Epicanthus, Pyloric stenosis, Cleft palate, Cleft vertebral arch, Fused cervical vertebrae, Coars... ORPHA:83617
Bloom Syndrome
Sparse eyelashes, Small for gestational age, Esophageal neoplasm, Paronychia, Cheilitis, Abdomina... ORPHA:125
Turner Syndrome Due To Structural X Chromosome Anomalies
Alopecia, Epicanthus, Abnormal fingernail morphology, Failure to thrive in infancy, Abnormality o... ORPHA:99413
Mosaic Monosomy X
Alopecia, Epicanthus, Abnormal fingernail morphology, Failure to thrive in infancy, Abnormality o... ORPHA:99228
Monosomy X
Alopecia, Epicanthus, Abnormal fingernail morphology, Failure to thrive in infancy, Abnormality o... ORPHA:99226
Turner Syndrome
Alopecia, Epicanthus, Abnormal fingernail morphology, Failure to thrive in infancy, Abnormality o... ORPHA:881
Anaplastic Thyroid Carcinoma
Tracheoesophageal fistula, Weight loss ORPHA:142
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Kyphoscoliosis, Everted lower lip vermilion, Smooth philtrum, Protruding tongue ORPHA:324410
Lethal Faciocardiomelic Dysplasia
Microglossia, Narrow mouth ORPHA:1972
Icf Syndrome
Macroglossia, Epicanthus, Malabsorption, Protruding tongue ORPHA:2268
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Scoliosis, Protruding tongue OMIM:614325
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Curly hair, Thin upper lip vermilion, Telecanthus, Sacral dimple, Thoracolumbar scoliosis, Abnorm... ORPHA:480880
Systemic Lupus Erythematosus
Abnormal pigmentation of the oral mucosa, Cheilitis, Alopecia, Oral ulcer ORPHA:536
Kikuchi-Fujimoto Disease
Alopecia, Palpebral edema, Oral ulcer, Weight loss, Enlargement of parotid gland ORPHA:50918
Non-Functioning Paraganglioma
Weight loss ORPHA:94080
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Sparse body hair ORPHA:3068
Noonan Syndrome 1
Epicanthus, Failure to thrive in infancy, Kyphoscoliosis, Short neck, High, narrow palate, Dental... OMIM:163950
Acute Promyelocytic Leukemia
Stomatitis, Weight loss, Gingival overgrowth, Gingival bleeding ORPHA:520
Occipital Horn Syndrome
Hiatus hernia, Kyphosis, Coarse hair, Platyspondyly, High palate, Long philtrum, Pili torti OMIM:304150
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Glossoptosis, Cleft palate ORPHA:440354
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Dental crowding, Synophrys, Deep philtrum, Downturned corners of mouth, High palate, Thoracic hyp... OMIM:619503
Viss Syndrome
Chronic gastritis, High, narrow palate, High palate, Broad uvula, Bifid uvula, Alopecia, Cleft so... OMIM:619472
Joubert Syndrome 1
Epicanthus, Highly arched eyebrow, Protruding tongue, Macroglossia, Triangular-shaped open mouth,... OMIM:213300
Oculocutaneous Albinism Type 2
Hypopigmentation of hair, White hair, White eyebrow, White eyelashes ORPHA:79432
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Epicanthus, Sparse eyelashes, Sparse eyebrow, Widow's peak, Cleft palate, Eyelid coloboma, Ptosis ORPHA:306542
Cowden Syndrome 1
Colonic diverticula, Kyphosis, Furrowed tongue, Hamartomatous polyposis, High palate, Scoliosis, ... OMIM:158350
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Colonic diverticula, Intestinal pseudo-obstruction, Cachexia, Malabsorption, Intestinal perforati... OMIM:603041
Ogden Syndrome
Thin upper lip vermilion, Everted upper lip vermilion, Epicanthus, Abnormality of the dentition, ... OMIM:300855
Classic Hodgkin Lymphoma
Weight loss ORPHA:391
Monosomy 22Q13.3
Epicanthus, Sacral dimple, Dental crowding, Palpebral edema, Hypoplastic toenails, Dental maloccl... ORPHA:48652
Waardenburg Syndrome, Type 2E
Premature graying of hair, White forelock, White eyebrow, White eyelashes OMIM:611584
Refractory Celiac Disease
Villous atrophy, Malabsorption, Weight loss, Protein-losing enteropathy, Jejunitis ORPHA:398063
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Cachexia, Malabsorption, Steatorrhea, Ptosis ORPHA:3217
Hartnup Disease
Glossitis, Gingivitis, Malabsorption ORPHA:2116
Cerebrocostomandibular Syndrome
Anal stenosis, Epicanthus, Cleft soft palate, Carious teeth, Cleft lip, Pierre-Robin sequence, Cl... OMIM:117650
Wolman Disease
Esophageal varix, Cachexia, Steatorrhea ORPHA:75233
Trisomy 18
Epicanthus, Cachexia, Esophageal atresia, Non-midline cleft lip, Narrow palate, Cleft palate, Nar... ORPHA:3380
Methylmalonic Acidemia With Homocystinuria Type Cblf
Stomatitis, Failure to thrive, Glossitis, Cleft palate ORPHA:79284
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Thin upper lip vermilion, Epicanthus, Frontal balding, Highly arched eyebrow, Short neck, Synophr... OMIM:612474
Pallister-Killian Syndrome
Tented upper lip vermilion, Short neck, Anteriorly placed anus, Sparse hair, Bifid uvula, Alopeci... OMIM:601803
Behcet Syndrome
Patchy alopecia, Oral ulcer OMIM:109650
Charcot-Marie-Tooth Disease Type 4C
Neuropathic spinal arthropathy, Tongue atrophy, Tongue fasciculations, Scoliosis, Difficulty in t... ORPHA:99949
Chronic Graft Versus Host Disease
Alopecia, Esophageal stricture, Xerostomia, Weight loss, Keratoconjunctivitis sicca, Onycholysis,... ORPHA:99921
Isolated Congenital Alacrima
Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, Distichiasis, Ptosis ORPHA:91416
Osteosarcoma
Weight loss ORPHA:668
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Ectodermal Dysplasia And Immunodeficiency 2
Sparse hair, Aplasia of the sweat glands, Sparse scalp hair OMIM:612132
Colchicine Poisoning
Alopecia ORPHA:31824
Kaposi Sarcoma
Weight loss ORPHA:33276
Hypomandibular Faciocranial Dysostosis
Pursed lips, Aglossia OMIM:241310
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Ptosis, Intestinal m... ORPHA:2729
Acrocardiofacial Syndrome
Anal atresia, Long eyelashes, Cleft palate, Cleft upper lip ORPHA:2008
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Palpebral edema, Hiatus hernia, Narrow mouth, Thick lower lip vermilion, Downturned corners of mo... OMIM:614756
Chronic Beryllium Disease
Weight loss ORPHA:133
Adams-Oliver Syndrome 1
Alopecia, Supernumerary nipple, Cleft upper lip, Cleft palate, Small nail OMIM:100300
1Q21.1 Microdeletion Syndrome
Epicanthus, High palate, Scoliosis, Long philtrum, Failure to thrive, Ankyloglossia ORPHA:250989
Floating-Harbor Syndrome
Thin upper lip vermilion, Kyphoscoliosis, Short neck, Celiac disease, Carious teeth, Low posterio... OMIM:136140
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Horner syndrome, Weight loss OMIM:256700
Glycine Encephalopathy With Normal Serum Glycine
Long eyelashes, Ptosis OMIM:617301
Eosinophilic Fasciitis
Weight loss ORPHA:3165
Lysinuric Protein Intolerance
Sparse hair, Skeletal muscle atrophy, Fine hair OMIM:222700
Distal Deletion 15Q
Thin upper lip vermilion, Failure to thrive, Small for gestational age, Abnormality of the dentit... ORPHA:1596
Teebi-Shaltout Syndrome
Sparse hair, Low anterior hairline, Highly arched eyebrow, Slow-growing hair OMIM:272950
Aggressive Systemic Mastocytosis
Weight loss, Malabsorption ORPHA:98850
Bullous Pemphigoid
Weight loss ORPHA:703
Vascular Ehlers-Danlos Syndrome
High, narrow palate, Abnormality of the gingiva, Gingivitis, Periodontitis, Microdontia, Alopecia... ORPHA:286
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Menkes Disease
Sparse hair, Woolly hair, Hypopigmentation of hair, Aplasia/Hypoplasia of the abdominal wall musc... ORPHA:565
Igg4-Related Dacryoadenitis And Sialadenitis
Palpebral edema, Xerostomia, Enlarged lacrimal glands, Abnormality of the orbital region, Enlarge... ORPHA:79078
Deafness-Lymphedema-Leukemia Syndrome
Weight loss ORPHA:3226
Occipital Horn Syndrome
Thick hair, Hiatus hernia, High, narrow palate, Kyphosis, Coarse hair, Platyspondyly, Esophagitis... ORPHA:198
Goldberg-Shprintzen Syndrome
Sparse hair, Synophrys, Thick eyebrow, Highly arched eyebrow OMIM:609460
Xfe Progeroid Syndrome
Cachexia, Scoliosis, Premature loss of teeth, Failure to thrive, Enamel hypoplasia OMIM:610965
Yunis-Varon Syndrome
Sparse scalp hair, Sparse eyelashes, Premature loss of primary teeth, Sparse eyebrow, High, narro... ORPHA:3472
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Cockayne Syndrome A
Dry hair, Delayed eruption of primary teeth, Carious teeth, Kyphosis, Dental malocclusion, Hypopl... OMIM:216400
Liposarcoma
Weight loss ORPHA:69078
Relapsing Polychondritis
Anteriorly placed anus, Alopecia, Conjunctivitis, Recurrent aphthous stomatitis ORPHA:728
Bone Marrow Failure Syndrome 3
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Nail dystrophy, Small nail OMIM:617052
Woodhouse-Sakati Syndrome
Alopecia, Aplasia/Hypoplasia of the eyebrow, Anodontia ORPHA:3464
Polyarteritis Nodosa
Weight loss ORPHA:767
Fraser Syndrome
Anal stenosis, Dental crowding, Abnormal hair pattern, Cleft upper lip, Dental malocclusion, Orof... ORPHA:2052
Witteveen-Kolk Syndrome
High, narrow palate, Short philtrum, High palate, Shallow orbits, High anterior hairline, Medial ... OMIM:613406
Al Amyloidosis
Macroglossia, Abnormal salivary gland morphology, Xerostomia, Weight loss ORPHA:85443
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Scoliosis, Bifid tong... OMIM:613091
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia ORPHA:42
White-Sutton Syndrome
Sparse hair OMIM:616364
Budd-Chiari Syndrome
Intestinal obstruction, Weight loss, Esophageal varix, Malabsorption ORPHA:131
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Sparse hair, Nail dysplasia, Breast hypoplasia, Small nail OMIM:614813
Malignant Atrophic Papulosis
Intestinal perforation, Intestinal fistula, Weight loss, Ptosis ORPHA:679
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Sparse hair OMIM:615508
Acrofacial Dysostosis 1, Nager Type
Abnormality of the cervical spine, Sparse lower eyelashes, Aganglionic megacolon, Cleft upper lip... OMIM:154400
Acute Adrenal Insufficiency
Failure to thrive, Sparse axillary hair, Weight loss ORPHA:95409
Ablepharon-Macrostomia Syndrome
Absent eyebrow, Ablepharon, Hypoplasia of eyelid, Absent eyelashes, Anteriorly placed anus, Short... OMIM:200110
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Fanconi Anemia
Epicanthus, Aganglionic megacolon, Abnormal eyelid morphology, Aplasia/Hypoplasia of the uvula, A... ORPHA:84
Peroxisome Biogenesis Disorder 1A (Zellweger)
Epicanthus, Protruding tongue, High, narrow palate, Upslanted palpebral fissure, Macroglossia, Hi... OMIM:214100
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Sparse hair OMIM:615349
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Weight loss ORPHA:171876
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Sparse eyelashes, Short neck, Sparse eyebrow, Fine hair, Cleft vertebral arch,... OMIM:210710
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Kyphoscoliosis, Hypoplastic toenails, Cleft palate, Upslanted palpebral fissure, Downturned corne... ORPHA:488642
Pallister-Hall Syndrome
Natal tooth, Cleft upper lip, Hemivertebrae, Cleft palate, Anteriorly placed anus, Nail dysplasia... OMIM:146510
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
White eyelashes, White eyebrow, Aganglionic megacolon, Short-segment aganglionic megacolon, Ileus... OMIM:609136
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sparse hair, Synophrys, Toenail dysplasia, Hirsutism OMIM:300966
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, High, narrow palate, Synophrys, Abnormal curvature of the vertebral column, Short phil... OMIM:619475
Kawasaki Disease
Abnormality of nail color, Cheilitis, Conjunctivitis, Glossitis, Ptosis ORPHA:2331
Cockayne Syndrome
Dry hair, Abnormal dental morphology, Delayed eruption of primary teeth, Cachexia, Carious teeth,... ORPHA:191
Short Tarsus With Absence Of Lower Eyelashes
Hypoplasia of the lower eyelids, Absent lower eyelashes OMIM:600269
Drug Reaction With Eosinophilia And Systemic Symptoms
Enanthema, Weight loss ORPHA:139402
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Curly hair, Broad lateral eyebrow, Epicanthus, Failure to thrive in infancy, Lumbar hyperlordosis... ORPHA:500150
Aicardi-Goutieres Syndrome 9
Failure to thrive, Scoliosis, Weight loss OMIM:619487
X-Linked Dystonia-Parkinsonism
Blepharospasm, Protruding tongue ORPHA:53351
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Steinert Myotonic Dystrophy
Alopecia, Tented upper lip vermilion, Intestinal pseudo-obstruction, Abnormality of the tongue mu... ORPHA:273
Autosomal Recessive Malignant Osteopetrosis
Abnormality of hair texture ORPHA:667
Combined Immunodeficiency-Enteropathy Spectrum
Sparse hair, Absent eyebrow, Alopecia of scalp, Nail dystrophy ORPHA:436252
Dermatomyositis
Abnormal hair quantity, Abnormal eyelid morphology, Gastrointestinal stroma tumor, Weight loss, A... ORPHA:221
Peripheral Primitive Neuroectodermal Tumor
Back pain, Abnormal thoracic spine morphology, Weight loss ORPHA:370348
Gracile Bone Dysplasia
Failure to thrive, Ankyloglossia OMIM:602361
Short Stature, Microcephaly, And Endocrine Dysfunction
Sparse hair OMIM:616541
Achondrogenesis, Type Ia
Hypoplastic sacrum, Short neck, Protruding tongue, Stillbirth, Unossified vertebral bodies OMIM:200600
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Charcot-Marie-Tooth Disease Type 1F
Tongue atrophy, Scoliosis ORPHA:101085
Wild Type Attr Amyloidosis
Weight loss ORPHA:330001
Solitary Fibrous Tumor
Low back pain, Weight loss ORPHA:2126
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Abnormal large intestine morphology, Cachexia, Narrow palate, Hamartomatous... ORPHA:109
Perry Syndrome
Weight loss OMIM:168605
Phakomatosis Pigmentokeratotica
Patchy alopecia, Scoliosis ORPHA:2874
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Failure to thrive, Weight loss OMIM:619377
Congenital Fiber-Type Disproportion Myopathy
Dental crowding, Kyphoscoliosis, Hyperlordosis, Weight loss, High palate, Scoliosis, Failure to t... ORPHA:2020
Addison Disease
Celiac disease, Failure to thrive, Sparse axillary hair, Weight loss ORPHA:85138
Loeffler Endocarditis
Weight loss ORPHA:75566
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hyperlordosis, Protruding tongue, Macroglossia, Scoliosis, Decreased body weight, Open mouth ORPHA:258
Eosinophilic Granulomatosis With Polyangiitis
Intestinal obstruction, Weight loss, Malabsorption ORPHA:183
Juvenile Polyposis Of Infancy
Cachexia, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis, Hamartomatous poly... ORPHA:79076
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Sympathetic Ophthalmia
Alopecia, Poliosis ORPHA:79098
Cockayne Syndrome Type 3
Dry hair, Carious teeth, Kyphosis, Premature graying of hair, Keratoconjunctivitis sicca, Scolios... ORPHA:90324
Cowden Syndrome
Kyphosis, Furrowed tongue, Hamartomatous polyposis, Macroglossia, Colorectal polyposis, High pala... ORPHA:201
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Abnormal small intestinal villus morphology, Weight loss ORPHA:90362
Mosaic Variegated Aneuploidy Syndrome 2
Sparse hair OMIM:614114
Nephroblastoma
Weight loss ORPHA:654
Orofaciodigital Syndrome Type 14
Telecanthus, Accessory oral frenulum, Hamartoma of tongue, Short neck, Supernumerary tooth, Aplas... ORPHA:434179
Lymphoid Interstitial Pneumonia
Keratoconjunctivitis sicca, Failure to thrive, Weight loss ORPHA:79128
Sarcoidosis
Alopecia, Dacryocystitis, Enlarged lacrimal glands, Weight loss, Enlargement of parotid gland, Ab... ORPHA:797
8Q24.3 Microdeletion Syndrome
Thin upper lip vermilion, Thick eyebrow, Epicanthus, Small for gestational age, Thoracic scoliosi... ORPHA:508488
Granulomatosis With Polyangiitis
Conjunctivitis, Oral ulcer, Weight loss OMIM:608710
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Lynch Syndrome
Intestinal polyposis, Malabsorption, Weight loss, Neoplasm of the rectum, Colon cancer ORPHA:144
Toxic Epidermal Necrolysis
Entropion, Malabsorption, Intestinal perforation, Tracheoesophageal fistula, Weight loss, Conjunc... ORPHA:537
Juvenile Amyotrophic Lateral Sclerosis
Scoliosis, Cachexia ORPHA:300605
Microphthalmia With Linear Skin Defects Syndrome
Sacral dimple, Abnormal nasolacrimal system morphology, Abnormal dental enamel morphology, Abnorm... ORPHA:2556
Carney-Stratakis Syndrome
Gastrointestinal stroma tumor, Intestinal obstruction, Weight loss ORPHA:97286
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Natal tooth, Abnormality of the cervical spine, Dental crowding, Intestinal malrotation, Trichias... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Natal tooth, Abnormality of the cervical spine, Dental crowding, Intestinal malrotation, Trichias... ORPHA:353277
Felty Syndrome
Weight loss ORPHA:47612
Oculopharyngodistal Myopathy 1
Bilateral ptosis, Weight loss, High palate, Ptosis OMIM:164310
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Thin upper lip vermilion, Epicanthus, Tented upper lip vermilion, Kyphoscoliosis, Hypoplastic phi... OMIM:309580
Familial Colorectal Cancer Type X
Malabsorption, Weight loss, Neoplasm of the rectum, Neoplasm of the colon, Stomach cancer ORPHA:440437
Polymyositis
Weight loss ORPHA:732
Rheumatoid Arthritis
Weight loss OMIM:180300
Hereditary Amyloidosis With Primary Renal Involvement
Intestinal perforation, Intestinal obstruction, Weight loss ORPHA:85450
Monosomy 22
Sparse hair, Synophrys ORPHA:96123
Fatal Familial Insomnia
Weight loss OMIM:600072
Polycythemia Vera
Gingival bleeding, Weight loss ORPHA:729
Kaufman Oculocerebrofacial Syndrome
Sparse hair, Sparse eyebrow OMIM:244450
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Isolated Permanent Neonatal Diabetes Mellitus
Downturned corners of mouth, Bilateral ptosis, Failure to thrive, Weight loss ORPHA:99885
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Cystic Echinococcosis
Abnormality of the vertebral column, Weight loss ORPHA:400
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal stenosis, Esophageal neoplasm, Weight loss, Failure to thrive, Abnormal esophagus morp... ORPHA:1018
Medullary Thyroid Carcinoma
Weight loss ORPHA:1332
Acute Monoblastic/Monocytic Leukemia
Weight loss ORPHA:514
Scalp-Ear-Nipple Syndrome
Sparse hair, Breast aplasia, Abnormal fingernail morphology ORPHA:2036
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Primary Hepatic Neuroendocrine Carcinoma
Weight loss, Ptosis ORPHA:100085
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Weight loss, Intestinal pseudo-obstruction, Ptosis OMIM:607459
Familial Pancreatic Carcinoma
Back pain, Colon cancer, Intestinal pseudo-obstruction, Weight loss ORPHA:1333
Symptomatic Form Of Hfe-Related Hemochromatosis
Weight loss ORPHA:465508
Stevens-Johnson Syndrome
Esophageal stricture, Entropion, Conjunctivitis, Weight loss ORPHA:36426
Marfan Syndrome
Dental crowding, Slender build, Cachexia, Open bite, High, narrow palate, Kyphosis, Cleft palate,... ORPHA:558
Thymoma
Ulcerative colitis, Weight loss ORPHA:99867
Premature Aging Syndrome, Penttinen Type
Sparse hair OMIM:601812
Late-Onset Isolated Acth Deficiency
Celiac disease, Failure to thrive, Weight loss ORPHA:199299
Systemic Capillary Leak Syndrome
Weight loss ORPHA:188
Intellectual Developmental Disorder, Autosomal Dominant 54
Sparse hair, Thin nail OMIM:617799
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Acute colitis, Weight loss ORPHA:67
Normosmic Congenital Hypogonadotropic Hypogonadism
Sparse body hair, Breast hypoplasia ORPHA:432
Lysosomal Acid Lipase Deficiency
Cachexia, Esophageal varix, Weight loss, Xanthelasma, Steatorrhea, Failure to thrive ORPHA:275761
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Perianal abscess, Oral ulcer, Weight loss, Inflammation of the large intestine... OMIM:301074
Thymic Neuroendocrine Tumor
Weight loss ORPHA:97289
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Symblepharon, Trichiasis, Oral mucosal blisters, Intestinal perforation, Conjunctival hyperemia, ... ORPHA:95455
De Barsy Syndrome
Sparse hair ORPHA:2962
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Epicanthus, Short nail, Supernumerary nipple, Intestinal malrot... OMIM:312870
Pneumocystosis
Weight loss ORPHA:723
Microsporidiosis
Weight loss, Glossitis, Cachexia, Keratoconjunctivitis ORPHA:2552
Blomstrand Lethal Chondrodysplasia
Natal tooth, Telecanthus, Protruding tongue, Platyspondyly, Long philtrum ORPHA:50945
Caroli Disease
Conjunctival icterus, Esophageal varix, Weight loss ORPHA:53035
Orofaciodigital Syndrome Xiv
Natal tooth, Telecanthus, Hamartoma of tongue, Cleft lip, Supernumerary tooth, Aplasia of the epi... OMIM:615948
Yunis-Varon Syndrome
Anterior concavity of thoracic vertebrae, Short philtrum, Absent fingernail, High palate, Sparse ... OMIM:216340
Meckel Syndrome, Type 1
Smooth philtrum, Thin upper lip vermilion, Natal tooth, Intestinal malrotation, Cleft upper lip, ... OMIM:249000
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Tsh-Secreting Pituitary Adenoma
Abnormal hair quantity, Weight loss, Ptosis ORPHA:91347
Infantile Krabbe Disease
Failure to thrive, Cachexia ORPHA:206436
Primary Myelofibrosis
Cachexia ORPHA:824
Phosphoribosylpyrophosphate Synthetase Superactivity
Sparse hair OMIM:300661
Familial Glucocorticoid Deficiency
Failure to thrive, Weight loss ORPHA:361
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss ORPHA:276621
Cerebrocostomandibular Syndrome
Glossoptosis, Kyphosis, Short hard palate, Cleft palate ORPHA:1393
Whipple Disease
Cachexia, Malabsorption ORPHA:3452
Glucagonoma
Intestinal obstruction, Weight loss, Steatorrhea, Stomatitis, Glossitis ORPHA:97280
Alveolar Echinococcosis
Low back pain, Abnormal vertebral morphology, Weight loss ORPHA:284
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss, Keratoconjunctivitis sicca, Colitis, Steatorrhea ORPHA:309031
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss ORPHA:54251
Systemic Mastocytosis With Associated Hematologic Neoplasm
Peptic ulcer, Weight loss ORPHA:98849
Beta-Ketothiolase Deficiency
Weight loss ORPHA:134
Cartilage-Hair Hypoplasia
Sparse hair, Sparse eyebrow ORPHA:175
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Cleft palate, Platyspondyly, Micro... OMIM:263520
Cushing Syndrome Due To Ectopic Acth Secretion
Sparse scalp hair, Neoplasm of the stomach, Intra-oral hyperpigmentation, Increased body weight, ... ORPHA:99889
Hereditary Pheochromocytoma-Paraganglioma
Retinal capillary hemangioma, Weight loss ORPHA:29072
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Rat-Bite Fever
Back pain, Parotitis, Weight loss ORPHA:31205
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Protruding tongue OMIM:619580
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Erosion of oral mucosa, Anal fissure, Oral mucosal blisters, Carious teeth, Nail dystrophy, Narro... ORPHA:79408
Neuroendocrine Tumor Of The Colon
Weight loss ORPHA:100080
Proteus Syndrome
Abnormal dental enamel morphology, Cachexia, Carious teeth, Retinal hamartoma, Kyphosis, Generali... ORPHA:744
Bronchial Neuroendocrine Tumor
Weight loss ORPHA:97287
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Stomatitis, Failure to thrive, Glossitis, Smooth philtrum ORPHA:79282
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Kyphoscoliosis, Hyperlordosis, Abnormal tongue morphology, Thick vermilion... ORPHA:653
Intellectual Developmental Disorder, Autosomal Dominant 68
Sparse hair OMIM:619934
Erdheim-Chester Disease
Xanthelasma, Weight loss, Ptosis ORPHA:35687
Camurati-Engelmann Disease
Delayed eruption of teeth, Cachexia, Hyperlordosis, Carious teeth, Kyphosis, Abnormality of the v... ORPHA:1328
3-Hydroxy-3-Methylglutaric Aciduria
Weight loss ORPHA:20
Neuroendocrine Tumor Of The Rectum
Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Weight loss ORPHA:100082
Cystinosis, Nephropathic
Hypopigmentation of hair, Failure to thrive in infancy, Weight loss OMIM:219800
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Down Syndrome
Epicanthus, Aganglionic megacolon, Protruding tongue, Atlantoaxial instability, Duodenal stenosis... OMIM:190685
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Weight loss ORPHA:424
African Trypanosomiasis
Alopecia, Conjunctivitis, Weight loss ORPHA:3385
Immunodeficiency 31C
Villous atrophy, Protein-losing enteropathy, Intussusception, Weight loss OMIM:614162
Igg4-Related Retroperitoneal Fibrosis
Low back pain, Weight loss ORPHA:49041
Carney Complex
Neoplasm of the stomach, Esophageal neoplasm, Increased body weight, Neoplasm of the rectum, Abdo... ORPHA:1359
Simple Cryoglobulinemia
Weight loss ORPHA:91139
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Frontal balding, Failure to thrive, Hirsutism, Weight loss ORPHA:90794
Klatskin Tumor
Weight loss ORPHA:99978
Smith-Lemli-Opitz Syndrome
Epicanthus, Sacral dimple, Aganglionic megacolon, Dental crowding, Intestinal malrotation, Pylori... OMIM:270400
Behçet Disease
Malabsorption, Oral ulcer, Weight loss, Keratoconjunctivitis sicca, Recurrent aphthous stomatitis ORPHA:117
Multiple Myeloma
Vertebral compression fracture, Weight loss ORPHA:29073
Castleman Disease
Intestinal obstruction, Weight loss ORPHA:160
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Sparse pubic hair, Sparse body hair, Sparse axillary hair ORPHA:90796
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Sparse hair OMIM:620005
Riddle Syndrome
Conjunctival telangiectasia, Weight loss ORPHA:420741
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Malt Lymphoma
Abnormal nasolacrimal system morphology, Weight loss ORPHA:52417
Neurocardiofaciodigital Syndrome
Sparse hair, Sparse eyebrow OMIM:619869
Mandibuloacral Dysplasia Progeroid Syndrome
Sparse hair, Nail dystrophy, Sparse eyebrow OMIM:619127
Hereditary Late-Onset Parkinson Disease
Weight loss ORPHA:411602
Granulomatosis With Polyangiitis
Intestinal obstruction, Weight loss, Abnormal oral cavity morphology ORPHA:900
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Weight loss, Enlarged lacrimal glands, Abnormal salivary gla... OMIM:181000
Q Fever
Weight loss ORPHA:781
Zollinger-Ellison Syndrome
Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Weight loss, Esophagitis ORPHA:913
Anemia, Congenital Dyserythropoietic, Type Iv
Weight loss OMIM:613673
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormality of the cervical spine, Weight loss ORPHA:85408
Roberts Syndrome
Sparse hair ORPHA:3103
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tongue atrophy ORPHA:466768
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Sparse hair, Nail dysplasia OMIM:616682
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
Primary Sclerosing Cholangitis
Celiac disease, Adenocarcinoma of the large intestine, Ulcerative colitis, Weight loss ORPHA:171
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cachexia, Esophageal varix, Gastric ulcer, Scoliosis, Thoracolumbar kyphosis, Ptosis ORPHA:2072
Ileal Neuroendocrine Tumor
Intestinal fistula, Weight loss ORPHA:100078
Neuroendocrine Tumor Of Stomach
Weight loss ORPHA:100075
Liver Disease, Severe Congenital
Chronic gastritis, Epicanthus, Dry hair, Protein-losing enteropathy, Nail dystrophy, Failure to t... OMIM:619991
Thyrotoxic Periodic Paralysis
Obesity, Weight loss ORPHA:79102
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Weight loss OMIM:615846
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Sparse hair, Frontal hirsutism OMIM:617157
Familial Thrombocytosis
Weight loss ORPHA:71493
Pallister-Hall Syndrome
Natal tooth, Accessory oral frenulum, Large for gestational age, Cleft lip, Hemivertebrae, Cleft ... ORPHA:672
Somatostatinoma
Intestinal obstruction, Weight loss, Steatorrhea ORPHA:97283
Ppoma
Intestinal obstruction, Weight loss ORPHA:97278
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Gallbladder Neuroendocrine Tumor
Weight loss ORPHA:100086
Stüve-Wiedemann Syndrome
Sacral dimple, Smooth tongue, Scoliosis, Abnormality of the dentition ORPHA:3206
Brucellosis
Sacroiliac arthritis, Failure to thrive, Small for gestational age, Weight loss ORPHA:1304
Parathyroid Carcinoma
Peptic ulcer, Weight loss ORPHA:143
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Duodenal ulcer, Gastritis, Oral ulcer, Weight loss, Colitis, Anoperineal fistula OMIM:619381
Vipoma
Weight loss, Malabsorption ORPHA:97282
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Epicanthus, Cleft upper lip, Esophageal atresia, Ectopic anus, Absent or minimally ossified verte... ORPHA:93271
Trichorhinophalangeal Syndrome, Type Ii
Sparse scalp hair, Thick eyebrow, Sparse hair, Alopecia of scalp, Fragile nails OMIM:150230
Choreoacanthocytosis
Blepharospasm, Weight loss, Protruding tongue ORPHA:2388
Meckel Syndrome
Aplasia/Hypoplasia of the tongue, Cleft palate, Furrowed tongue ORPHA:564
Grfoma
Intestinal obstruction, Weight loss ORPHA:97261
Igg4-Related Kidney Disease
Dacryocystitis, Sialadenitis, Weight loss ORPHA:449395
Nocardiosis
Dacryocystitis, Conjunctivitis, Weight loss ORPHA:31204
Lipodystrophy, Familial Partial, Type 7
Sparse hair, Sparse scalp hair OMIM:606721
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia ORPHA:220295
Pyomyositis
Weight loss ORPHA:764
Pancreatoblastoma
Weight loss ORPHA:677
Congenital Disorder Of Glycosylation, Type Iiw
Supernumerary tooth, Failure to thrive, Ankyloglossia, Scoliosis OMIM:619525
Multiple Endocrine Neoplasia Type 1
Gingival fibromatosis, Duodenal ulcer, Peptic ulcer, Weight loss ORPHA:652
Wiedemann-Rautenstrauch Syndrome
Sparse scalp hair, Synophrys, Sparse hair, Hirsutism, Aplasia/Hypoplasia of the nails ORPHA:3455
Tropical Pancreatitis
Weight loss ORPHA:103918
Wrinkly Skin Syndrome
Sparse hair, Short nail, Fragile nails OMIM:278250
Branchiooculofacial Syndrome
Supernumerary nipple, Low posterior hairline, Premature graying of hair, White forelock, Sparse h... OMIM:113620
Pulmonary Alveolar Microlithiasis
Weight loss ORPHA:60025
Postinfectious Vasculitis
Weight loss ORPHA:48435
Microphthalmia, Syndromic 6
Orbital cyst, Cleft palate, High palate, Microglossia, Failure to thrive, Bifid uvula OMIM:607932
Plague
Chapped lip, Enterocolitis, Inflammation of the large intestine, Conjunctival hyperemia, Glossitis ORPHA:707
Bilateral Perisylvian Polymicrogyria
Protruding tongue ORPHA:98889
Wrinkly Skin Syndrome
Sparse hair ORPHA:2834
Primrose Syndrome
Sparse scalp hair, Absent facial hair, Synophrys, Absent axillary hair, Dystrophic fingernails, S... OMIM:259050
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337
Norrie Disease
Failure to thrive, Thin vermilion border, Scoliosis, Cachexia ORPHA:649
Alström Syndrome
Abnormality of dental color, Thoracic scoliosis, Frontal balding, Kyphosis, Esophageal varix, Obe... ORPHA:64
Tubulointerstitial Nephritis And Uveitis Syndrome
Weight loss ORPHA:91500
Roberts-Sc Phocomelia Syndrome
Sparse hair OMIM:268300
Goodpasture Syndrome
Weight loss OMIM:233450
Tropical Endomyocardial Fibrosis
Cachexia ORPHA:75565

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 Hoxc13

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 Hoxc13.

No publications found that use IMPC mice or data for Hoxc13.

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
Hoxc13tm3e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Hoxc13tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Hoxc13tm3a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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