Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
hypermethylated in cancer 1
Synonyms:
HIC-1

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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 Hic1 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 Hic1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Miller-Dieker Syndrome
Short nose, Omphalocele, Abnormality of upper lip, Clinodactyly of the 5th finger, Anteverted nares ORPHA:531

The table below shows human diseases predicted to be associated to Hic1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Sarcoma, Oropharyngeal squamous cell carcinoma, Squamous cell... OMIM:606719
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Perifolliculitis, Chronic furunculosis, Recurrent cutaneous abscess formation, Acne inversa, Squa... OMIM:613736
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Disseminated Superficial Actinic Porokeratosis
Pruritus, Squamous cell carcinoma ORPHA:79152
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Li-Fraumeni Syndrome 2
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Tumor Predisposition Syndrome
Uveal melanoma, Cutaneous melanoma, Meningioma, Renal cell carcinoma, Lung adenocarcinoma OMIM:614327
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Squamous cell carcinoma OMIM:618267
Cerebral Sarcoma
Neoplasm, Fibrosarcoma OMIM:117600
Li-Fraumeni Syndrome
Prostate cancer, Prostate neoplasm, Soft tissue sarcoma, Lung adenocarcinoma, Nephroblastoma, Ost... OMIM:151623
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Neoplasm, Oropharyngeal squamous cell carcinom... ORPHA:443167
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Cheilitis Glandularis
Neoplasm, Abnormal salivary gland morphology, Squamous cell carcinoma ORPHA:1221
Hyperkeratosis Lenticularis Perstans
Basal cell carcinoma, Pruritus, Squamous cell carcinoma ORPHA:409
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Desmoid Disease, Hereditary
Desmoid tumors, Colon cancer OMIM:135290
Epidermodysplasia Verruciformis
Pustule, Seborrheic dermatitis, Verrucae, Recurrent skin infections, Squamous cell carcinoma ORPHA:302
Keratosis, Familial Actinic
Neoplasm, Uterine neoplasm, Carcinoma OMIM:148390
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Squamous cell carcinoma, Multinodular goiter OMIM:618373
Schopf-Schulz-Passarge Syndrome
Basal cell carcinoma, Apocrine hidrocystoma, Poroma, Squamous cell carcinoma OMIM:224750
Combined Immunodeficiency Due To Dock8 Deficiency
Anal canal squamous carcinoma, Atopic dermatitis, Recurrent bacterial skin infections, Recurrent ... ORPHA:217390
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Acquired Ichthyosis
Pruritus, Multiple myeloma, Lymphoma, Neoplasm, Sarcoma, Recurrent skin infections ORPHA:454
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Abnormality of the peritoneum ORPHA:2023
Cheilitis Glandularis
Squamous cell carcinoma, Cheilitis, Carcinoma OMIM:118330
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Basal cell carcinoma, Non-Hodgkin lymphoma, Ovarian cyst, Neoplasm of the rectum, Endometrial car... ORPHA:454840
Xeroderma Pigmentosum Variant
Basal cell carcinoma, Keratitis, Squamous cell carcinoma, Melanoma ORPHA:90342
Holoprosencephaly 5
Semilobar holoprosencephaly, Macrotia, Holoprosencephaly, Deep philtrum, Alobar holoprosencephaly... OMIM:609637
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Unilateral vestibular Schwannoma, Carcinoma OMIM:603641
Pancreatic Cancer, Susceptibility To, 5
Pancreatic adenocarcinoma, Melanoma OMIM:618680
Ichthyosis, Hystrix-Like, With Deafness
Erythroderma, Squamous cell carcinoma, Punctate keratitis OMIM:602540
Schöpf-Schulz-Passarge Syndrome
Basal cell carcinoma, Ovarian neoplasm, Squamous cell carcinoma ORPHA:50944
Punctate Palmoplantar Keratoderma Type 1
Hodgkin lymphoma, Renal cell carcinoma, Breast carcinoma, Transitional cell carcinoma of the blad... ORPHA:79501
Dyskeratosis Congenita, Autosomal Recessive 3
Squamous cell carcinoma OMIM:613988
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Paget Disease, Extramammary
Neoplasm, Eczematoid dermatitis OMIM:167300
Muir-Torre Syndrome
Laryngeal carcinoma, Basal cell carcinoma, Carcinoma, Sebaceous gland carcinoma, Adenoma sebaceum... OMIM:158320
Oral Submucous Fibrosis
Cheilitis, Oropharyngeal squamous cell carcinoma, Abnormality of the pharynx ORPHA:357154
Hereditary Breast And Ovarian Cancer Syndrome
Prostate cancer, Ovarian neoplasm, Primary peritoneal carcinoma, Breast carcinoma, Neoplasm of th... ORPHA:145
Acalvaria
Spina bifida, Postaxial hand polydactyly, Calvarial skull defect, Holoprosencephaly, Omphalocele,... ORPHA:945
Bazex Syndrome
Neoplasm, Pruritus, Liposarcoma, Lung adenocarcinoma ORPHA:166113
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Osteoarthritis, Sarcoma ORPHA:2762
Serrated Polyposis Syndrome
Biliary tract neoplasm, Prostate cancer, Ovarian neoplasm, Germ cell neoplasia, Colorectal polypo... ORPHA:157798
Necrobiosis Lipoidica
Squamous cell carcinoma, Inflammatory abnormality of the skin ORPHA:542592
Paraneoplastic Pemphigus
Thymoma, Sarcoma, B-cell lymphoma ORPHA:63455
Colorectal Cancer, Susceptibility To, 10
Colorectal polyposis, Endometrial carcinoma, Carcinoma OMIM:612591
Li-Fraumeni Syndrome
Non-Hodgkin lymphoma, Ovarian neoplasm, Neoplasm, Colorectal polyposis, Hodgkin lymphoma, Breast ... ORPHA:524
Chromosome 1Q41-Q42 Deletion Syndrome
Frontal bossing, Holoprosencephaly, Cleft upper lip, Cleft palate, Talipes equinovarus, Anteverte... OMIM:612530
Xeroderma Pigmentosum, Variant Type
Basal cell carcinoma, Cutaneous melanoma, Conjunctivitis, Keratitis, Squamous cell carcinoma OMIM:278750
Large Congenital Melanocytic Nevus
Pruritus, Cutaneous melanoma, Neoplasm, Sarcoma, Rhabdomyosarcoma, Neoplasm of the skin ORPHA:626
Chronic Actinic Dermatitis
Pruritus, Actinic keratosis, Allergic rhinitis, Erythroderma, Eczema, Late onset atopic dermatitis ORPHA:330064
Epidermodysplasia Verruciformis, X-Linked
Verrucae, Squamous cell carcinoma of the skin OMIM:305350
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:166000
Mast Cell Sarcoma
Hepatomegaly, Sarcoma, Splenomegaly ORPHA:66661
Maffucci Syndrome
Neoplasm of the parathyroid gland, Goiter, Chondrosarcoma, Ovarian neoplasm, Hemangiomatosis, Mul... ORPHA:163634
Hartsfield Syndrome
Craniosynostosis, Split hand, Low-set, posteriorly rotated ears, Non-midline cleft lip, Aplasia/H... ORPHA:2117
Pityriasis Rubra Pilaris
Pruritus, Pustule, Erythroderma, Neoplasm, Eczema ORPHA:2897
Ollier Disease
Hemangioma, Chondrosarcoma, Multiple enchondromatosis, Neoplasm, Sarcoma, Visceral angiomatosis, ... ORPHA:296
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Immunodeficiency 51
Recurrent bronchitis, Folliculitis, Cutaneous abscess, Pustule, Chronic oral candidiasis, Recurre... OMIM:613953
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Short philtrum, Short nose, Frontal bossing, Aganglionic megacolon, Abnormality of the pinna, Wid... OMIM:613603
Acrocephalopolydactyly
Premature closure of fontanelles, Abnormality of the mouth, Short nose, Oxycephaly, Limb undergro... ORPHA:221054
Papillon-Lefèvre Syndrome
Severe periodontitis, Pustule, Periodontitis, Recurrent respiratory infections, Squamous cell car... ORPHA:678
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:614569
Palmoplantar Carcinoma, Multiple Self-Healing
Squamous cell carcinoma, Carcinoma OMIM:615225
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Narrow mouth, Downturned corners of mouth, Short distal phalanx of finger, Attached ea... ORPHA:1327
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Long philtrum, Thin vermilion border, Craniosynostosis, Toe syndactyly, Radioulnar synostosis, Sh... ORPHA:171839
Liposarcoma
Sarcoma ORPHA:69078
Cutaneous Neuroendocrine Carcinoma
Basal cell carcinoma, Multiple myeloma, Neoplasm of the outer ear, Carcinoid tumor, Brain neoplas... ORPHA:79140
Distal Monosomy 7Q36
Bulbous nose, Macrotia, Holoprosencephaly, Abnormality of calvarial morphology, Wide mouth, Symph... ORPHA:1636
Recurrent Respiratory Papillomatosis
Abnormal lung morphology, Recurrent upper respiratory tract infections, Tracheomalacia, Atelectas... ORPHA:60032
Fanconi Renotubular Syndrome 5
Emphysema, Lung adenocarcinoma, Pulmonary fibrosis OMIM:618913
Monosomy 18P
Carious teeth, Short philtrum, Tooth malposition, Abnormality of the antihelix, Downturned corner... ORPHA:1598
Porokeratosis
Pruritus, Squamous cell carcinoma of the skin ORPHA:79358
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Abnormality of the antihelix, Craniosynostosis, Short nose, Finger syndactyly... ORPHA:2145
Conductive Deafness-Malformed External Ear Syndrome
Abnormality of the middle ear ossicles, Overfolded helix, Conductive hearing impairment, Abnormal... ORPHA:3216
Mosaic Trisomy 14
Camptodactyly of finger, Frontal bossing, Low-set, posteriorly rotated ears, Wide mouth, Wide nas... ORPHA:1703
Diffuse Cutaneous Mastocytosis
Pruritus, Erythroderma, Hepatomegaly, Leukemia, Cutaneous mastocytosis ORPHA:79456
Infantile Myofibromatosis
Gingival fibromatosis, Benign neoplasm of the central nervous system, Fibroma, Sarcoma, Neoplasm ... ORPHA:2591
Familial Melanoma
Neoplasm of the stomach, Neoplasm of the pancreas, Neoplasm of the breast, Melanoma ORPHA:618
Acne Inversa, Familial, 3
Recurrent cutaneous abscess formation, Chronic furunculosis, Acne inversa, Perifolliculitis OMIM:613737
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Chromosome 3Q13.31 Deletion Syndrome
Short philtrum, Macrotia, Dolichocephaly, Alobar holoprosencephaly, Plagiocephaly, Low-set ears, ... OMIM:615433
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Hyperparathyroidism, Hamartoma, Hurthle cell thyroid adenoma, Papillary re... OMIM:145001
Epidermodysplasia Verruciformis, Susceptibility To, 5
Verrucae, Squamous cell carcinoma of the skin OMIM:618309
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Carcinoma, Renal a... OMIM:610755
Catifa Syndrome
Long philtrum, Delayed eruption of teeth, Tooth malposition, Camptodactyly, Inguinal hernia, Incr... OMIM:618761
Verrucous Hemangioma
Hemangioma, Inflammatory abnormality of the skin, Papilloma ORPHA:464318
Holoprosencephaly With Fetal Akinesia/Hypokinesia Sequence
Intrauterine growth retardation, Holoprosencephaly OMIM:306990
Zechi-Ceide Syndrome
Thin vermilion border, Oligodontia, Short philtrum, Short metatarsal, Downturned corners of mouth... ORPHA:217017
Lambotte Syndrome
Semilobar holoprosencephaly, Convex nasal ridge, Narrow mouth, Macrotia, Atresia of the external ... OMIM:245552
Desmoplastic Small Round Cell Tumor
Neoplasm of the central nervous system, Ovarian neoplasm, Abnormality of the peritoneum, Hepatome... ORPHA:83469
Gcgr-Related Hyperglucagonemia
Glucagonoma, Neoplasm of the pancreas, Abnormal biliary tract morphology, Cholelithiasis ORPHA:438274
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Long philtrum, Conductive hearing impairment, Abnormality of the pinna, Low-set ears, Sensorineur... OMIM:618500
Isotretinoin Syndrome
Biparietal narrowing, Abnormality of the outer ear, Spina bifida occulta, Cleft palate, Microtia,... ORPHA:2305
Asbestos Intoxication
Subpleural honeycombing, Ground-glass opacification, Abnormal sputum, Interlobular septal thicken... ORPHA:2302
Aminopterin/Methotrexate Embryofetopathy
Finger syndactyly, Holoprosencephaly, Low-set, posteriorly rotated ears, Spinal dysraphism, Mesom... ORPHA:1908
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Fibrosarcoma, Adenomatous colonic polyposis, Breast carcinoma, Adrenocort... ORPHA:247806
Adenylosuccinate Lyase Deficiency
Long philtrum, Short nose, Flat occiput, Smooth philtrum, Thin upper lip vermilion, Low-set ears,... ORPHA:46
Au-Kline Syndrome
Oligodontia, Craniosynostosis, Downturned corners of mouth, Open mouth, Overlapping toe, Underdev... OMIM:616580
Vitamin K Antagonist Embryofetopathy
Macroglossia, Short nose, Anteverted nares, Choanal atresia, Short distal phalanx of finger, Hear... ORPHA:1914
Yellow Nail Syndrome
Biliary tract neoplasm, Renal neoplasm, Pleuritis, Bronchiectasis, Neoplasm, Rhinitis, Sarcoma, N... ORPHA:662
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the antihelix, Preaxial hand polydactyly, Short nose, Absent tragus, Overfolded he... ORPHA:79113
Triploidy
Macroglossia, Narrow mouth, Finger syndactyly, Holoprosencephaly, Low-set, posteriorly rotated ea... ORPHA:3376
Mental Retardation, Autosomal Recessive 35
Long philtrum, Downturned corners of mouth, Everted lower lip vermilion, Flat occiput, Hypoplasia... OMIM:615162
Lethal Osteosclerotic Bone Dysplasia
Median cleft lip and palate, Gingival fibromatosis, Short nose, Large fontanelles, Posteriorly ro... ORPHA:1832
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Erythroderma, Cutaneous mastocytosis ORPHA:280785
Holoprosencephaly, Recurrent Infections, And Monocytosis
Holoprosencephaly, Short finger, Abnormality of the pinna, Tapered finger, Brachycephaly, Short t... OMIM:610680
Ring Chromosome 8 Syndrome
Short nose, Frontal bossing, Abnormal palate morphology, Round ear, Anteverted nares, Deviation o... ORPHA:1450
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Long philtrum, Everted lower lip vermilion, Flat occiput, Hypoplasia of the ulna, Thick nasal ala... ORPHA:357175
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Underdeveloped nasal alae, Conductive hearing impairment, Joint contracture of the 5th finger, Wi... OMIM:248910
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Squamous cell carcinoma of the skin ORPHA:85112
Genitourinary And/Or Brain Malformation Syndrome
Long philtrum, Short nose, Holoprosencephaly, Aplasia of the nasal bone, Acrania, Jejunal atresia... OMIM:618820
Agnathia-Otocephaly Complex
Narrow mouth, Aglossia, Laryngeal hypoplasia, Conductive hearing impairment, Holoprosencephaly, T... OMIM:202650
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Low-set, posteriorly rotated ears, Thin upper lip vermilion, Cleft palate, Anteverted... ORPHA:2015
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Camptodactyly of finger, Holoprosencephaly, Abnormal pleura morphology, Low-set ears, Hydranencep... ORPHA:2570
17Q21.31 Microduplication Syndrome
Short philtrum, Toe syndactyly, Short nose, Abnormality of the dentition, Abnormality of the oute... ORPHA:217340
Familial Adenomatous Polyposis 1
Multiple gastric polyps, Medulloblastoma, Adrenocortical adenoma, Carcinoma, Fibroma, Osteoma, Sm... OMIM:175100
Gastrointestinal Stromal Tumor
Skin rash, Neoplasm of the gastrointestinal tract, Gastrointestinal stroma tumor, Neoplasm of the... ORPHA:44890
Vissers-Bodmer Syndrome
Intrauterine growth retardation, Holoprosencephaly, Tapered finger OMIM:619033
Simpson-Golabi-Behmel Syndrome, Type 2
Pneumonia, High palate, Scaphocephaly, Wide nose, Recurrent upper respiratory tract infections, T... OMIM:300209
Bloom Syndrome
Cryptorchidism, Bronchiectasis, Recurrent upper respiratory tract infections, Lymphoma, Malar ras... OMIM:210900
Chromomycosis
Pruritus, Multiple cutaneous malignancies, Abnormal lung morphology, Keratitis, Keratoconjunctivi... ORPHA:182
Rhabdoid Tumor
Neoplasm of the central nervous system, Renal neoplasm, Sarcoma, Neoplasm of the liver ORPHA:69077
Microtia
Anotia, Hypoplastic helices, Holoprosencephaly, Atresia of the external auditory canal, Abnormali... ORPHA:83463
Gardner Syndrome
Adrenocortical adenoma, Ampulla of Vater carcinoma, Fibrosarcoma, Adenomatous colonic polyposis, ... ORPHA:79665
Mullegama-Klein-Martinez Syndrome
Long philtrum, Short philtrum, Bulbous nose, Frontal bossing, Polydactyly, Smooth philtrum, Wide ... OMIM:301022
Cortical Blindness, Retardation, And Postaxial Polydactyly
Long philtrum, Short nose, Frontal bossing OMIM:218010
Exostoses, Multiple, Type Ii
Scapular exostoses, Rib exostoses, Chondrosarcoma, Pelvic bone exostoses OMIM:133701
Holoprosencephaly 7
Semilobar holoprosencephaly, Median cleft lip and palate, Absent nasal septal cartilage, Depresse... OMIM:610828
Short Stature-Obesity Syndrome
Limb undergrowth, Brachydactyly, Narrow nose, Clinodactyly of the 5th finger, Prominent nasal bri... OMIM:269870
1Q41Q42 Microdeletion Syndrome
Broad nasal tip, Underdeveloped nasal alae, Frontal bossing, Holoprosencephaly, Thick vermilion b... ORPHA:250999
Thanatophoric Dysplasia Type 2
Frontal bossing, Holoprosencephaly, Cloverleaf skull, Hearing impairment, Aplasia/Hypoplasia of t... ORPHA:93274
Exostoses, Multiple, Type I
Scapular exostoses, Rib exostoses, Chondrosarcoma, Pelvic bone exostoses OMIM:133700
Congenital Disorder Of Glycosylation, Type Iig
Talipes equinovarus, Pierre-Robin sequence, Rhizomelia, Camptodactyly, Low-set, posteriorly rotat... OMIM:611209
Sweeney-Cox Syndrome
Short philtrum, Narrow mouth, Underdeveloped nasal alae, Overfolded helix, Wide anterior fontanel... OMIM:617746
Werner Syndrome
Renal neoplasm, Aplasia/Hypoplasia of the testes, Ovarian neoplasm, Neoplasm of the oral cavity, ... ORPHA:902
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Holoprosencephaly, Foot oligodactyly, Bilateral cleft lip and palate, Omphalocele, L... OMIM:601357
Distal Monosomy 9P
Abnormality of the antihelix, Short nose, Midface retrusion, Low-set, posteriorly rotated ears, A... ORPHA:1642
Chilblain Lupus
Skin rash, Pruritis on hand, Discoid lupus rash, Chronic myelomonocytic leukemia, Malar rash, Inf... ORPHA:90280
Non-Distal Trisomy 10Q
Convex nasal ridge, Short nose, Frontal bossing, Low-set, posteriorly rotated ears, Everted lower... ORPHA:1695
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Dental crowding, Short distal phalanx of finger, Partial duplication of the phalanx ... OMIM:616331
16P13.11 Microdeletion Syndrome
Camptodactyly of finger, Talipes equinovarus, Short nose, Holoprosencephaly, Atresia of the exter... ORPHA:261236
Huriez Syndrome
Squamous cell carcinoma of the skin OMIM:181600
Mycosis Fungoides
Pruritus, Lymphoma, Eczema, Psoriasiform dermatitis, Neoplasm of the skin OMIM:254400
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Camptodactyly of finger, Frontal bossing, Finger syndactyly, Low-set, posteriorly rotated ears, A... ORPHA:2994
Sézary Syndrome
Pruritus, Abnormal pleura morphology, Erythroderma, Lymphoma, Hepatomegaly, Splenomegaly, Cutaneo... ORPHA:3162
Robinow Syndrome, Autosomal Recessive 2
Long philtrum, Broad thumb, Broad nasal tip, Anteverted nares, Short nose, Midface retrusion, Fro... OMIM:618529
14Q11.2 Microdeletion Syndrome
Long philtrum, Toe syndactyly, Narrow mouth, Short nose, Low-set, posteriorly rotated ears, High ... ORPHA:261120
Mental retardation, x-linked, syndromic, Turner type
Holoprosencephaly, Tapered finger OMIM:300706
Endocrine-Cerebroosteodysplasia
Depressed nasal tip, Polydactyly, Holoprosencephaly, Midface retrusion, Natal tooth, Preaxial pol... OMIM:612651
Fanconi Anemia, Complementation Group P
Cryptorchidism, Squamous cell carcinoma, Bulbous nose OMIM:613951
Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenocarcinoma of the colon, Fibroma, Uterine leiomyoma, Colorectal polyposis, ... ORPHA:220460
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Hydranencephaly, Hydrocephalus OMIM:617967
Disorder Of Sex Development-Intellectual Disability Syndrome
Genu valgum, Short philtrum, Thin vermilion border, Short nose, Downturned corners of mouth, Low-... ORPHA:2983
Cebalid Syndrome
Short nose, Midface retrusion, Platystencephaly, Abnormality of the pinna, Plagiocephaly, Posteri... OMIM:618774
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Narrow mouth, Narrow internal auditory canal, Holoprosencephaly, Low-set, posteriorly rotated ear... ORPHA:990
Distal Monosomy 17Q
Abnormal thumb morphology, Narrow mouth, Abnormality of the philtrum, Aplasia/Hypoplasia of the u... ORPHA:1597
Wilson-Turner Syndrome
Short foot, Thin upper lip vermilion, Small hand, Broad nasal tip, Tapered finger, Microtia ORPHA:3459
Meier-Gorlin Syndrome 8
Narrow mouth, Thick vermilion border, Low-set ears, Intrauterine growth retardation, Microtia OMIM:617564
Microphthalmia, Isolated, With Coloboma 5
Oral cleft, Holoprosencephaly OMIM:611638
Mental Retardation, Autosomal Dominant 1
Bulbous nose, Downturned corners of mouth, Open mouth, Short nose, Frontal bossing, Wide mouth, A... OMIM:156200
Milroy Disease
Hydrocele testis, Erysipelas, Angiosarcoma, Neoplasm of the skin ORPHA:79452
Epidermolytic Palmoplantar Keratoderma
Eczema, Verrucae ORPHA:2199
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Thin vermilion border, Narrow mouth, Short nose, Low-set, posteriorly rotated ears, Abnormality o... ORPHA:2370
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Long philtrum, Narrow mouth, Downturned corners of mouth, Everted lower lip vermilion, Sandal gap... OMIM:618089
Pallister-Hall Syndrome
Y-shaped metacarpals, Atresia of the external auditory canal, Natal tooth, Choanal atresia, Mesoa... OMIM:146510
Ovarian Fibrothecoma
Peritonitis, Abnormality of the ovary, Pleural effusion, Fibrosarcoma, Diffuse leiomyomatosis, Ov... ORPHA:314478
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Bulbous nose, Open mouth, Short nose, Frontal bossing, Camptodactyly, Thin upper lip vermilion, P... OMIM:613604
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
20P12.3 Microdeletion Syndrome
Long philtrum, Thickened helices, Broad thumb, Narrow mouth, Broad hallux phalanx, Wide nasal bri... ORPHA:261295
Mental Retardation, X-Linked 91
Short nose, Small hand, Clinodactyly, Short foot, High palate, Short 5th finger, Macrodontia OMIM:300577
Xeroderma Pigmentosum, Complementation Group E
Basal cell carcinoma, Conjunctivitis, Keratitis, Squamous cell carcinoma of the skin, Melanoma OMIM:278740
Microcephaly 6, Primary, Autosomal Recessive
Microtia, Bifid nasal tip OMIM:608393
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Broad thumb, Abnormality of the philtrum, Biparietal narrowing, Low-set, posteriorly rotated ears... ORPHA:1770
Tarp Syndrome
Prominent antihelix, Talipes equinovarus, Hypoplasia of the radius, Cutaneous syndactyly, Large f... OMIM:311900
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Long philtrum, Radial club hand, Abnormality of dental morphology, Upper limb phocomelia, Conduct... ORPHA:2878
Treacher Collins Syndrome 2
Choanal stenosis, Conductive hearing impairment, Choanal atresia, Cleft palate, Microtia OMIM:613717
Familial Adenomatous Polyposis
Thyroiditis, Colorectal polyposis, Adenomatous colonic polyposis, Neoplasm of the adrenal gland, ... ORPHA:733
Pancreatic Agenesis-Holoprosencephaly Syndrome
Semilobar holoprosencephaly, Holoprosencephaly, Abnormality of the pinna, Solitary median maxilla... ORPHA:556955
Potocki-Shaffer Syndrome
Wormian bones, Short philtrum, Short nose, Underdeveloped nasal alae, Downturned corners of mouth... OMIM:601224
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Short nose, Dental crowding, Macrotia, 2-3 toe syndactyly, Thick vermilion border, Hypodontia, Cl... OMIM:617061
Epidermolysis Bullosa Simplex With Pyloric Atresia
Microtia, Underdeveloped nasal alae OMIM:612138
Ohdo Syndrome
Long philtrum, Thin vermilion border, Hypoplasia of teeth, Narrow mouth, Short nose, Smooth philt... OMIM:249620
20Q11.2 Microduplication Syndrome
Tented philtrum, Short nose, Prominent metopic ridge, Thickened ears, Low-set, posteriorly rotate... ORPHA:363659
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short philtrum, Metaphyseal chondrodysplasia, Short nose, Frontal bossing, Rhizomelia, Metaphysea... ORPHA:163966
Weiss-Kruszka Syndrome
Short nose, Overfolded helix, Low-set ears, Cupped ear, Hearing impairment, Horizontal crus of he... OMIM:618619
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wormian bones, Short nose, Large fontanelles, Frontal bossing, Deep philtrum, Micromelia, Metaphy... OMIM:613320
17P13.3 Microduplication Syndrome
Narrow mouth, Short nose, Frontal bossing, Low-set ears, Inguinal hernia, High palate, Clinodacty... ORPHA:217385
Maxillonasal Dysplasia, Binder Type
Short nose, Short columella, Short distal phalanx of finger, Dental malocclusion, Large earlobe, ... OMIM:155050
Oculoauriculofrontonasal Syndrome
Narrow mouth, Underdeveloped nasal alae, Conductive hearing impairment, Cleft lip, Microtia, Clef... ORPHA:398156
Trisomy 18
Narrow palate, Narrow mouth, Choanal atresia, Omphalocele, Anencephaly, Postaxial hand polydactyl... ORPHA:3380
Even-Plus Syndrome
Short nose, Midface retrusion, Hypodontia, Anal atresia, Brachycephaly, Bifid nasal tip, High pal... OMIM:616854
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Camptodactyly of finger, Narrow mouth, Short nose, Abnormal palate morphology, Death in infancy, ... ORPHA:1495
Pierpont Syndrome
Thin vermilion border, Short toe, Broad nasal tip, Short nose, Midface retrusion, Everted lower l... OMIM:602342
Hemifacial Microsomia With Radial Defects
Triphalangeal thumb, Conductive hearing impairment, Atresia of the external auditory canal, Non-m... OMIM:141400
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Conjunctivitis, Squamous cell carcinoma OMIM:226600
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Myelodysplasia, Eczema, Lymphoma OMIM:616871
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Narrow mouth, Anteverted nares, Overfolded helix, Midface retrusion, Frontal bossing, Low-set ear... OMIM:608624
Coxoauricular Syndrome
Hearing impairment, Microtia OMIM:122780
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Thin vermilion border, Carious teeth, Short nose, Anteverted nares, Macrotia, Low-set, posteriorl... ORPHA:2701
Chromosome 6Q11-Q14 Deletion Syndrome
Long philtrum, Short nose, Abnormality of the pinna, Umbilical hernia, Thin upper lip vermilion, ... OMIM:613544
Fg Syndrome Type 1
Craniosynostosis, Open mouth, Dental crowding, Choanal atresia, Sensorineural hearing impairment,... ORPHA:93932
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Pneumonia, Low-set ears, High palate, Anteverted nares, Chronic bronchitis, Depressed... OMIM:614069
Microform Holoprosencephaly
Short philtrum, Short nose, Holoprosencephaly, Choanal atresia, Midnasal stenosis, Tented upper l... ORPHA:280200
Femoral-Facial Syndrome
Long philtrum, Short femur, Radioulnar synostosis, Short nose, Preaxial foot polydactyly, Oral cl... ORPHA:1988
Gms Syndrome
Short philtrum, Short nose, Low-set ears, Small hand, Microtia, Short palm, Depressed nasal bridge OMIM:138770
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Short nose, Frontal bossing, Symphalangism affecting the phalanges of th... ORPHA:2547
Nabais Sa-De Vries Syndrome, Type 2
Thin vermilion border, Bulbous nose, Anteverted nares, Frontal bossing, Bilateral cleft lip and p... OMIM:618829
Mandibulofacial Dysostosis, Guion-Almeida Type
Preaxial hand polydactyly, Short nose, Overfolded helix, Conductive hearing impairment, Midface r... OMIM:610536
Perlman Syndrome
Thickened helices, Short nose, Open mouth, Dolichocephaly, Smooth philtrum, Wide nasal bridge, Po... ORPHA:2849
Fanconi Anemia, Complementation Group L
Esophageal atresia, Absent thumb, Wide nasal bridge, Anal atresia, Cleft palate, Intrauterine gro... OMIM:614083
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Recurrent bacterial skin infections, Keratoconjunctivitis sicca, Squamous cell carcinoma OMIM:148210
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Narrow mouth, Camptodactyly, Irregular dentition, Hearing impairment, Syndactyly, Pulmonary lymph... OMIM:616006
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Holoprosencephaly, Pyriform aperture stenosis, Torus palatinus, ... OMIM:147250
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis OMIM:608189
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Conjunctival hamartoma ORPHA:312
Xeroderma Pigmentosum, Complementation Group C
Basal cell carcinoma, Cutaneous melanoma, Conjunctivitis, Keratitis, Squamous cell carcinoma of t... OMIM:278720
Trichothiodystrophy 1, Photosensitive
Basal cell carcinoma, Keratoconjunctivitis sicca, Erythroderma, Squamous cell carcinoma OMIM:601675
49,Xxxxy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Radioulna... ORPHA:96264
Rhiny
Thin vermilion border, Inguinal hernia, Anteverted nares, Short nose OMIM:180360
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Long philtrum, Short nose, Midface retrusion, Unilambdoid synostosis, Wide nasal bridge, Plagioce... OMIM:618577
Holoprosencephaly-Caudal Dysgenesis Syndrome
Radial club hand, Holoprosencephaly, Abnormality of the radius, Low-set ears, Cleft palate, Media... ORPHA:2165
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Neoplasm of the rectum, Neoplasm of the nose, Enlarged polycystic ovaries... ORPHA:2869
Microtia-Anotia
Anotia, Holoprosencephaly, Microtia OMIM:600674
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Generalized Eruptive Histiocytosis
Pruritus, Leukemia, Maculopapular exanthema ORPHA:157991
Osteopathia Striata With Cranial Sclerosis
Delayed closure of the anterior fontanelle, Large fontanelles, Dental crowding, Overfolded helix,... OMIM:300373
Chromosome 16P13.3 Duplication Syndrome
Short phalanx of finger, Bulbous nose, Short nose, Midface retrusion, Camptodactyly, Low-set ears... OMIM:613458
Short-Rib Thoracic Dysplasia 12
Natal tooth, Intestinal malrotation, Hamartoma of tongue, Anencephaly, Omphalocele, Bowing of the... OMIM:269860
Hypertelorism, Microtia, Facial Clefting Syndrome
Narrow mouth, Broad nasal tip, Conductive hearing impairment, Atresia of the external auditory ca... OMIM:239800
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Short mandibular rami, Dental malocclusion, Microtia, Tongue atrophy OMIM:141300
6Q16 Microdeletion Syndrome
Bulbous nose, Anteverted nares, Abnormal ear morphology, Low-set ears, Tapered finger, Microtia, ... ORPHA:171829
Holoprosencephaly 11
Holoprosencephaly, Cleft lip, Cleft palate OMIM:614226
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Craniosynostosis, Short nose, Overlapping toe, Thick vermilion border, Tented upper lip vermilion... OMIM:616723
Desmoid Tumor
Fibroma, Intestinal polyposis, Neoplasm of the skin, Desmoid tumors ORPHA:873
Raine Syndrome
Enamel hypoplasia, Narrow mouth, Choanal stenosis, Large fontanelles, Natal tooth, Choanal atresi... OMIM:259775
3-Hydroxyisobutyric Aciduria
Intrauterine growth retardation, Long philtrum, Microtia ORPHA:939
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Neoplasm, Eczema, Atopic dermatitis, Recurrent sinopulmonary infections OMIM:243700
Saethre-Chotzen Syndrome
Open bite, Abnormality of the antihelix, Craniosynostosis, Broad thumb, Narrow palate, Narrow int... ORPHA:794
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Long philtrum, Short nose, Dental crowding, Pierre-Robin sequence, Conductive hearing impairment,... OMIM:617877
Fatty Acyl-Coa Reductase 1 Deficiency
Long philtrum, Short nose, Macrotia, Smooth philtrum, Thin upper lip vermilion, Depressed nasal b... ORPHA:438178
Familial Reactive Perforating Collagenosis
Pruritus, Perifolliculitis, Maculopapular exanthema, Crusting erythematous dermatitis, Inflammato... ORPHA:79147
Facial Paresis, Hereditary Congenital, 3
Short nose, Downturned corners of mouth, Midface retrusion, Smooth philtrum, Posteriorly rotated ... OMIM:614744
Edinburgh Malformation Syndrome
Thin vermilion border, Narrow mouth, Downturned corners of mouth, Short nose, Frontal bossing, Ch... ORPHA:1895
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Long philtrum, Oligodontia, Large fontanelles, Recurrent otitis media, Smooth philtrum, Wide mout... OMIM:602562
Holoprosencephaly, Semilobar, With Craniosynostosis
Semilobar holoprosencephaly, Lambdoidal craniosynostosis, Short distal phalanx of finger, Coronal... OMIM:601370
Intellectual Developmental Disorder, X-Linked 30
Drooling, Open mouth, Short nose, Macrotia, Thin upper lip vermilion, High palate, Anteverted nares OMIM:300558
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Long philtrum, Talipes equinovarus, Narrow mouth, Short nose, Dental crowding, Midface retrusion,... OMIM:615539
Pallister-Hall-Like Syndrome
Postaxial hand polydactyly, Short nose, Death in infancy, Microglossia, Depressed nasal bridge, P... OMIM:241800
Pfeiffer Syndrome Type 1
Short hallux, Broad thumb, Toe syndactyly, Short nose, Finger syndactyly, Hallux varus, Midface r... ORPHA:93258
Diabetic Embryopathy
Frontal bossing, Low-set, posteriorly rotated ears, Spinal dysraphism, Hearing impairment, Cleft ... ORPHA:1926
Acrofacial Dysostosis, Rodríguez Type
Radioulnar synostosis, Finger syndactyly, Arrhinencephaly, Aqueductal stenosis, Aplasia/Hypoplasi... ORPHA:1788
Opsoclonus-Myoclonus Syndrome
Ovarian teratoma, Neuroblastoma, Neoplasm, Breast carcinoma, Neoplasm of the lung, Small cell lun... ORPHA:1183
Treacher Collins Syndrome 3
Conductive hearing impairment, Abnormality of the outer ear, Microtia, Cleft palate OMIM:248390
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Finger syndactyly, Atresia of the external auditory canal, Non-midline cleft l... ORPHA:3429
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Frontal bossing, Microtia OMIM:618158
Oculoauriculovertebral Spectrum With Radial Defects
Triphalangeal thumb, Abnormality of the middle ear ossicles, Preaxial hand polydactyly, Conductiv... ORPHA:2549
Chondrodysplasia With Joint Dislocations, Gpapp Type
Genu valgum, Narrow mouth, Short nose, Short foot, Short metacarpal, Wide nasal bridge, Cleft pal... OMIM:614078
Microtia, Hearing Impairment, And Cleft Palate
Overfolded helix, Stenosis of the external auditory canal, Mixed hearing impairment, Cleft palate... OMIM:612290
Holoprosencephaly 3
Midface retrusion, Holoprosencephaly, Short columella, Abnormality of the nose, Solitary median m... OMIM:142945
Benign Cephalic Histiocytosis
Skin rash, Inflammatory abnormality of the skin ORPHA:157997
Adrenocortical Carcinoma
Adrenocorticotropic hormone deficiency, Lung adenocarcinoma, Adrenocortical carcinoma ORPHA:1501
Oncogenic Osteomalacia
Neoplasm of head and neck, Neurofibromas, Carcinoma, Giant cell tumor of bone, Neoplasm of the sk... ORPHA:352540
Hypertelorism-Microtia-Facial Clefting Syndrome
Median cleft lip and palate, Conductive hearing impairment, Atresia of the external auditory cana... ORPHA:2213
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Short nose, Frontal bossing, Rhizomelia, Metaphyseal cupping of metacarpals, Metaphyseal cupping,... OMIM:300863
Dermatomyositis
Pruritus, Gastrointestinal stroma tumor, Pericarditis, Pulmonary fibrosis, Lymphoma, Neoplasm, Ab... ORPHA:221
Immunodeficiency 58
Esophagitis, Seborrheic dermatitis, Cutaneous abscess, Allergic rhinitis, Bronchiectasis, Recurre... OMIM:618131
Johnson Neuroectodermal Syndrome
Carious teeth, Preaxial hand polydactyly, Hand polydactyly, Bulbous nose, Conductive hearing impa... ORPHA:2316
Humeroradial Synostosis With Craniofacial Anomalies
Small earlobe, Humeroradial synostosis, Tarsal synostosis, Frontal bossing, Wide nasal bridge, Pl... OMIM:236410
Isotretinoin Embryopathy-Like Syndrome
Anotia, Hydrocephalus, Microtia, Cleft palate OMIM:243440
Meier-Gorlin Syndrome 6
Underdeveloped nasal alae, Sandal gap, Stenosis of the external auditory canal, Depressed nasal b... OMIM:616835
Schilbach-Rott Syndrome
Narrow mouth, 3-4 finger cutaneous syndactyly, 2-3 toe cutaneous syndactyly, Posteriorly rotated ... OMIM:164220
Maxillonasal Dysplasia
Open bite, Short nose, Depressed nasal ridge, Midface retrusion, Short columella, Abnormality of ... ORPHA:1248
Monosomy 13Q14
Thickened helices, Finger syndactyly, Holoprosencephaly, Wide nasal bridge, Low-set ears, Aplasia... ORPHA:1587
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Narrow mouth, Short nose, Depressed nasal ridge, Abnormal oral cavity morphology, Anteverted nares ORPHA:1355
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma
Microtia OMIM:611863
Holoprosencephaly-Craniosynostosis Syndrome
Craniosynostosis, Holoprosencephaly, Short distal phalanx of finger, Plagiocephaly, Brachycephaly... ORPHA:2163
Holoprosencephaly
Abnormality of the antihelix, Branchial anomaly, Spinal dysraphism, Choanal atresia, Omphalocele,... ORPHA:2162
Coffin-Siris Syndrome 9
Abnormality of the columella, Short philtrum, Short nose, Open mouth, Underdeveloped nasal alae, ... OMIM:615866
Pfeiffer Syndrome Type 2
Broad thumb, Broad hallux phalanx, Atresia of the external auditory canal, Intestinal malrotation... ORPHA:93259
Cerebrooculonasal Syndrome
Postaxial hand polydactyly, Narrow palate, Short nose, Downturned corners of mouth, Anteverted na... OMIM:605627
Steinfeld Syndrome
Median cleft lip and palate, Hypoplasia of the radius, Holoprosencephaly, Hypoplasia of the ulna,... OMIM:184705
Distal Monosomy 13Q
Holoprosencephaly, Anencephaly, Abnormality of the metacarpal bones, Aplasia/Hypoplasia of the th... ORPHA:1590
Branchiootic Syndrome 1
Hypoplasia of the cochlea, Cochlear malformation, Branchial fistula, Low-set ears, Cupped ear, Se... OMIM:602588
Kerion Celsi
Recurrent skin infections, Recurrent cutaneous abscess formation, Inflammatory abnormality of the... ORPHA:499
Opitz-Kaveggia Syndrome
Delayed closure of the anterior fontanelle, Narrow palate, Broad thumb, Dental crowding, Split ha... OMIM:305450
Distal Trisomy 18Q
Camptodactyly of finger, Carious teeth, Short nose, Abnormality of dental morphology, Low-set, po... ORPHA:1716
Fetal Trimethadione Syndrome
Short nose, Overfolded helix, Midface retrusion, Low-set ears, Abnormality of the helix, Brachyce... ORPHA:1913
Mastocytosis
Pruritus, Chronic leukemia, Hepatomegaly, Sarcoma, Splenomegaly, Acute leukemia ORPHA:98292
Ring Chromosome 21 Syndrome
Holoprosencephaly, Clinodactyly, Syndactyly, Small hand ORPHA:1445
Rothmund-Thomson Syndrome
Basal cell carcinoma, Myelodysplasia, Skin rash, Squamous cell carcinoma, Malar rash, Leukemia, N... ORPHA:2909
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Long philtrum, Abnormal metatarsal morphology, Anteverted nares, Abnormal palate morphology, Wide... ORPHA:163654
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Frontal bossing, Posteriorly rotated ears, Metaphyseal dysplasia, Clinodactyly, Low-set ears, Int... OMIM:618336
Retinoblastoma
Retinoblastoma, Lymphoma, Osteosarcoma, Pinealoma, Leukemia, Ewing sarcoma OMIM:180200
Developmental And Epileptic Encephalopathy 73
Short nose, Midface retrusion, Inguinal hernia, Sensorineural hearing impairment, Narrow nasal br... OMIM:618379
Contractures-Developmental Delay-Pierre Robin Syndrome
Abnormality of the columella, Abnormality of finger, Radioulnar synostosis, Overlapping toe, Unde... ORPHA:436003
Short Stature And Facioauriculothoracic Malformations
Overfolded helix, Low-set ears, Cupped ear, Cleft upper lip, Cleft palate, High palate, Microtia OMIM:609654
Holoprosencephaly 9
Prominent antihelix, Short philtrum, Postaxial hand polydactyly, Macrotia, Midface retrusion, Hol... OMIM:610829
Cancer-Associated Retinopathy
Prostate cancer, Cutaneous melanoma, Neoplasm of the breast, Uterine neoplasm, Malignant genitour... ORPHA:71505
Postaxial Acrofacial Dysostosis
Camptodactyly of finger, Hypoplasia of the radius, Finger syndactyly, Conductive hearing impairme... ORPHA:246
Camptodactyly Syndrome, Guadalajara, Type I
Small earlobe, Wormian bones, Short metatarsal, Narrow mouth, Downturned corners of mouth, Tubula... OMIM:211910
Fetal Valproate Spectrum Disorder
Long philtrum, Thin vermilion border, Short nose, Narrow mouth, Downturned corners of mouth, Omph... ORPHA:1906
Aymé-Gripp Syndrome
Oligodontia, Craniosynostosis, Narrow mouth, Large fontanelles, Camptodactyly, Sensorineural hear... ORPHA:1272
Iniencephaly
Rocker bottom foot, Spina bifida, Narrow mouth, Holoprosencephaly, Rhizomelia, Spinal dysraphism,... ORPHA:63259
Immunodeficiency 55
Eczema, Myelodysplasia, Recurrent skin infections OMIM:617827
Microphthalmia With Limb Anomalies
Sandal gap, High palate, Depressed nasal bridge, Postaxial hand polydactyly, Foot oligodactyly, L... OMIM:206920
Pleuropulmonary Blastoma
Medulloblastoma, Rhabdomyosarcoma, Pleuropulmonary blastoma OMIM:601200
Isotretinoin-Like Syndrome
Anotia, Abnormality of the pulmonary veins, Thin anteverted nares, Aplasia/Hypoplasia of the inne... ORPHA:2306
Omenn Syndrome
Pruritus, Thyroiditis, Erythroderma, Pneumonia, Lymphoma, Hepatomegaly, Splenomegaly ORPHA:39041
Cowden Syndrome 1
Hydrocele testis, Ovarian cyst, Subcutaneous lipoma, Goiter, Carcinoma, Thyroiditis, Meningioma, ... OMIM:158350
Autosomal Recessive Omodysplasia
Long philtrum, Hypoplastic distal humeri, Craniosynostosis, Short nose, Frontal bossing, Rhizomel... ORPHA:93329
Familial Colorectal Cancer Type X
Basal cell carcinoma, Benign neoplasm of the central nervous system, Neuroblastoma, Neoplasm of t... ORPHA:440437
19P13.3 Microduplication Syndrome
Short philtrum, Narrow mouth, Underdeveloped nasal alae, Thick vermilion border, Posteriorly rota... ORPHA:447980
Humeroradial Synostosis
Small earlobe, Humeroradial synostosis, Wide nasal bridge, Brachycephaly, Microtia OMIM:236400
Chung-Jansen Syndrome
Long philtrum, Short philtrum, Thin vermilion border, Short nose, Anteverted nares, Macrotia, Cli... OMIM:617991
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyoma, Multiple cutaneous leiomyomas, Cutaneous leiomyoma, Renal cell carcinoma, Cuta... OMIM:150800
Nager Syndrome
Hypoplasia of the radius, Low-set, posteriorly rotated ears, Abnormal palate morphology, Atresia ... ORPHA:245
Parietal Foramina With Cleidocranial Dysplasia
Parietal foramina, Symmetrical, oval parietal bone defects, Widely patent fontanelles and sutures... OMIM:168550
Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome
Pheochromocytoma, Jaundice, Carcinoid tumor, Neurofibromas OMIM:162240
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Long philtrum, Preaxial hand polydactyly, Exencephaly, Broad thumb, Large fontanelles, Finger syn... ORPHA:2211
Pfeiffer Syndrome
Humeroradial synostosis, Broad thumb, Short nose, Choanal stenosis, Dental crowding, Finger synda... OMIM:101600
Classic Mycosis Fungoides
Skin rash, Pruritus, Lymphoma, Hepatomegaly, Splenomegaly, Eczema, Cutaneous T-cell lymphoma, Neo... ORPHA:2584
Branchiootorenal Syndrome 1
Hypoplasia of the cochlea, Branchial cyst, Dilatated internal auditory canal, Branchial fistula, ... OMIM:113650
Ring Chromosome 7 Syndrome
3-4 toe syndactyly, Thin vermilion border, Small earlobe, Narrow mouth, Genu valgum, Narrow naris... ORPHA:1449
Non-Distal Trisomy 13Q
Long philtrum, Thin vermilion border, Postaxial hand polydactyly, Abnormality of the antihelix, S... ORPHA:1702
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Biparietal narrowing, Short nose, Underdeveloped nasal alae, Low-set, posteriorly rotated ears, M... ORPHA:2031
Lynch Syndrome
Basal cell carcinoma, Ovarian neoplasm, Colon cancer, Benign neoplasm of the central nervous syst... ORPHA:144
Pelvis-Shoulder Dysplasia
Dislocated radial head, Spina bifida, Camptodactyly of finger, Bilateral external ear deformity, ... ORPHA:2839
Jacobsen Syndrome
Short nose, Anteverted nares, Holoprosencephaly, Flat occiput, Recurrent respiratory infections, ... OMIM:147791
Combined Oxidative Phosphorylation Deficiency 25
Long philtrum, Short nose, Wide nasal bridge, Low-set ears, Anteverted nares, Depressed nasal bridge OMIM:616430
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Adducted thumb, Hydrocephalus, Aqueductal stenosis ORPHA:2182
Fetal Hydantoin Syndrome
Short nose, Low-set, posteriorly rotated ears, Everted lower lip vermilion, Wide mouth, Abnormali... ORPHA:1912
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Hamartoma of tongue, Postaxial polydactyly, Depressed nasal bridge, Wide anterior fo... OMIM:617925
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia of the 1st metacarpal, Hearing abnormality, Hypoplasia of the ulna, Wide nasal bridge, Cl... ORPHA:1352
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Craniosynostosis, Wide mouth, Low-set ears, Hearing impairment, Microtia, Anteverted nares, Widel... OMIM:619056
Acromicric Dysplasia
Long philtrum, Abnormality of femur morphology, Narrow mouth, Bulbous nose, Anteverted nares, Sho... ORPHA:969
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Oculocutaneous Albinism Type 1B
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma ORPHA:79434
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Bronchiectasis, Recurrent upper respiratory tract infections, Esophageal carcinoma, Thyroiditis, ... ORPHA:391487
Holoprosencephaly 4
Semilobar holoprosencephaly, Median cleft lip and palate, Absent nasal septal cartilage, Depresse... OMIM:142946
Kindler Epidermolysis Bullosa
Inflammation of the large intestine, Esophagitis, Periodontitis, Laryngeal stenosis, Cheilitis, C... ORPHA:2908
Hyperphosphatasia With Mental Retardation Syndrome 1
Downturned corners of mouth, Short distal phalanx of finger, Sensorineural hearing impairment, Hy... OMIM:239300
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypoplasia of the radius, Holoprosencephaly, Atresia of the external auditory canal, Hypoplasia o... ORPHA:3186
Buratti-Harel Syndrome
Broad thumb, Broad hallux, Laryngomalacia, Posteriorly rotated ears, Low-set ears, Microtia, Recu... OMIM:619314
Pseudotrisomy 13 Syndrome
Median cleft lip and palate, Postaxial hand polydactyly, Holoprosencephaly, 2-3 toe syndactyly, O... OMIM:264480
Meier-Gorlin Syndrome 2
Narrow mouth, Underdeveloped nasal alae, Camptodactyly, Smooth philtrum, Tracheomalacia, Abnormal... OMIM:613800
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Long philtrum, Short toe, Short phalanx of finger, Tapered metacarpals, Anteverted nares, Single ... OMIM:611717
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Short nose, Frontal bossing, Thick nasal alae, Posteriorly rotated ears, Low... ORPHA:163961
Craniodigital-Intellectual Disability Syndrome
Short nose, Finger syndactyly, Brachycephaly, Spina bifida occulta, Narrow nasal bridge ORPHA:1514
Lowry-Maclean Syndrome
Convex nasal ridge, Delayed eruption of primary teeth, Talon cusp, Craniosynostosis, Short nose, ... ORPHA:2409
Meige Disease
Angiosarcoma, Pleural effusion, Recurrent bacterial skin infections, Laryngeal edema, Recurrent s... ORPHA:90186
Ayme-Gripp Syndrome
Narrow mouth, Camptodactyly, Sensorineural hearing impairment, Broad philtrum, Depressed nasal br... OMIM:601088
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Laryngeal carcinoma, Decreased testicular size, Carcinoma OMIM:610644
Lambert-Eaton Myasthenic Syndrome
Keratoconjunctivitis sicca, Small cell lung carcinoma ORPHA:43393
Gomez-Lopez-Hernandez Syndrome
Wormian bones, Thin vermilion border, Craniosynostosis, Short nose, Wide anterior fontanel, Midfa... OMIM:601853
Distal Xq28 Microduplication Syndrome
Absent antihelix, Open mouth, Dental crowding, Recurrent upper respiratory tract infections, Epis... ORPHA:293939
Coxoauricular Syndrome
Atresia of the external auditory canal, Hearing impairment, Abnormality of femur morphology, Micr... ORPHA:1508
Clark-Baraitser Syndrome
Long philtrum, Short nose, Downturned corners of mouth, Wide mouth, Sandal gap, Clinodactyly, Hig... OMIM:617752
Achondrogenesis
Long philtrum, Short nose, Frontal bossing, Umbilical hernia, Inguinal hernia, Aplasia/Hypoplasia... ORPHA:932
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Goiter, Abnormal testis morphology, Neoplasm of the thyroid gland, Neoplasm of the breast, Polycy... ORPHA:457059
Distal Tetrasomy 15Q
Craniosynostosis, Camptodactyly, Low-set ears, Cupped ear, Pulmonary hypoplasia, Sensorineural he... ORPHA:314588
Von Hippel-Lindau Syndrome
Pulmonary capillary hemangiomatosis, Retinal capillary hemangioma, Pheochromocytoma, Pancreatic c... OMIM:193300
Faciodigitogenital Syndrome, Autosomal Recessive
Prominent nasal bridge, Narrow palate, Short nose, Deep philtrum, Camptodactyly, Wide mouth, Post... OMIM:227330
Acrofacial Dysostosis, Cincinnati Type
Anotia, Macrotia, Midface retrusion, Choanal atresia, Cleft palate, Femoral bowing, Microtia OMIM:616462
Skin Creases, Congenital Symmetric Circumferential, 2
Carious teeth, Narrow mouth, Posteriorly rotated ears, Low-set ears, Depressed nasal bridge, Micr... OMIM:616734
Van Maldergem Syndrome 1
Downturned corners of mouth, Atresia of the external auditory canal, Sensorineural hearing impair... OMIM:601390
Acitretin/Etretinate Embryopathy
Abnormality of the calcaneus, Hypoplastic nasal septum, Median cleft palate, Cupped ear, Aplasia/... ORPHA:40366
Bazex Syndrome
Basal cell carcinoma, Atopic dermatitis, Underdeveloped nasal alae, Eczema, Acne inversa, Trichoe... OMIM:301845
Hereditary Acrokeratotic Poikiloderma
Pustule, Transitional cell carcinoma of the bladder, Keratoconjunctivitis, Squamous cell carcinom... ORPHA:2907
Familial Pancreatic Carcinoma
Peritoneal abscess, Elevated hepatic transaminase, Extrahepatic cholestasis, Colon cancer, Exocri... ORPHA:1333
Rothmund-Thomson Syndrome Type 1
Basal cell carcinoma, Myelodysplasia, Cryptorchidism, Premature ovarian insufficiency, Squamous c... ORPHA:221008
Holoprosencephaly-Postaxial Polydactyly Syndrome
Postaxial hand polydactyly, Narrow mouth, Holoprosencephaly, Absent nares, Low-set, posteriorly r... ORPHA:2166
Smith-Lemli-Opitz Syndrome
Abnormal dental enamel morphology, Split hand, Choanal atresia, Abnormality of the metacarpal bon... ORPHA:818
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Short nose, Macrotia, Smooth philtrum, Wide mouth, Thin upper lip vermilion, Low-se... OMIM:615419
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Semilobar holoprosencephaly, Talipes equinovarus, Thick vermilion border, Umbilical hernia, Ingui... OMIM:618651
Rothmund-Thomson Syndrome Type 2
Basal cell carcinoma, Myelodysplasia, Cryptorchidism, Slender nose, Squamous cell carcinoma, Lymp... ORPHA:221016
Hartsfield Syndrome
Craniosynostosis, Posteriorly rotated ears, Cleft palate, Low-set ears, Syndactyly, Cleft upper l... OMIM:615465
Brachycephaly, Deafness, Cataract, Microstomia, And Mental Retardation
Long philtrum, Rocker bottom foot, Narrow mouth, Short nose, Finger clinodactyly, Camptodactyly, ... OMIM:601353
Seckel Syndrome 7
Clinodactyly, Abnormality of the carpal bones, Intrauterine growth retardation, Microtia, Promine... OMIM:614851
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Long philtrum, Radioulnar synostosis, Conductive hearing impairment, Sp... OMIM:171480
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Midface retrusion, Microtia OMIM:300946
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteomyelitis leading to amputation due to slow healing fractures, Fibrosarcoma, Osteosarcoma, Hi... OMIM:112250
Terminal Osseous Dysplasia
Fibroma OMIM:300244
Kagami-Ogata Syndrome
Long philtrum, Frontal bossing, Omphalocele, Limb undergrowth, Long fingers, Laryngomalacia, Ingu... OMIM:608149
X-Linked Intellectual Disability, Van Esch Type
Intrauterine growth retardation, Clinodactyly of the 5th finger, Microtia, Coronal craniosynostosis ORPHA:163976
Van Maldergem Syndrome 2
Short 4th metacarpal, Talipes equinovarus, Wide anterior fontanel, Downturned corners of mouth, S... OMIM:615546
Pfeiffer Syndrome Type 3
Broad thumb, Broad hallux phalanx, Intestinal malrotation, Choanal atresia, Stenosis of the exter... ORPHA:93260
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Macroglossia, Absent frontal sinuses, Anteverted nares, Short nose, Umbilical hernia, Radial devi... OMIM:301040
Pituitary Hormone Deficiency, Combined, 1
Macroglossia, Short nose, Frontal bossing, Midface retrusion, Delayed cranial suture closure, Ant... OMIM:613038
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Macroglossia, Bulbous nose, Downturned corners of mouth, Open mouth, Short nose, Macrotia, Campto... ORPHA:369891
Antley-Bixler Syndrome
Long philtrum, Camptodactyly of finger, Craniosynostosis, Narrow mouth, Anteverted nares, Short n... ORPHA:83
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Bulbous nose, Downturned corners of mouth, Open mouth, Short nose, Midface retrusion, Frontal bos... OMIM:618430
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Delayed closure of the anterior fontanelle, Narrow mout... OMIM:311300
Peho Syndrome
Biparietal narrowing, Short nose, Open mouth, Anteverted nares, Macrotia, Midface retrusion, Abno... ORPHA:2836
Otopalatodigital Syndrome Type 2
Oligodontia, Tarsal synostosis, Narrow mouth, Large fontanelles, Hypoplastic frontal sinuses, Omp... ORPHA:90652
Sener Syndrome
Wide anterior fontanel, Natal tooth, Wide mouth, Umbilical hernia, Smooth philtrum, Hypodontia, P... OMIM:606156
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Camptodactyly of finger, Short nose, Underdeveloped nasal alae, Overfolded helix, Macrotia, Poste... ORPHA:2083
Mental Retardation, Autosomal Dominant 20
Short philtrum, Short nose, Downturned corners of mouth, Low-set ears, Anteverted nares, Depresse... OMIM:613443
Familial Multinodular Goiter
Alveolar rhabdomyosarcoma, Basal cell carcinoma, Ovarian neoplasm, Pilomatrixoma, Pleuropulmonary... ORPHA:276399
Tuberous Sclerosis 2
Chordoma, Cardiac rhabdomyoma, Gingival fibromatosis, Subungual fibromas, Pulmonary lymphangiomyo... OMIM:613254
Trisomy 20P
Thin vermilion border, Abnormality of the antihelix, Downturned corners of mouth, Preaxial hand p... ORPHA:261318
Carney Complex
Elevated circulating growth hormone concentration, Osteochondroma, Cardiac myxoma, Bronchogenic c... ORPHA:1359
Bainbridge-Ropers Syndrome
Short nose, Dental crowding, Everted lower lip vermilion, Wide mouth, Broad nasal tip, High palat... OMIM:615485
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Short metatarsal, Short phalanx of finger, Depressed nasal bri... ORPHA:439822
Burn-Mckeown Syndrome
Short nose, Abnormal palate morphology, Bilateral choanal atresia, Wide nasal bridge, Prominent n... ORPHA:1200
Acrodysostosis
Open bite, Short metatarsal, Open mouth, Abnormality of the metacarpal bones, Abnormality of the ... ORPHA:950
Retinoblastoma
Retinoblastoma, Glioma, Uveitis, Lymphoma, Leiomyosarcoma, Osteosarcoma, Rhabdomyosarcoma, Leukem... ORPHA:790
Meier-Gorlin Syndrome 7
Craniosynostosis, Narrow mouth, Wide anterior fontanel, Anal stenosis, Sagittal craniosynostosis,... OMIM:617063
Pyoderma Gangrenosum
Myeloid leukemia, Pustule, Myelodysplasia, Inflammation of the large intestine, Rheumatoid arthri... ORPHA:48104
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Alobar holoprosencephaly, Solitary median maxillary central incisor,... OMIM:301043
21Q22.11Q22.12 Microdeletion Syndrome
Bulbous nose, Downturned corners of mouth, Dental crowding, Camptodactyly, Cone-shaped epiphyses ... ORPHA:261323
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Long philtrum, Macroglossia, Talipes equinovarus, Dental crowding, Radial deviation of finger, Wi... OMIM:141750
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Craniosynostosis, Narrow mouth, Sandal gap, Metatarsus adductus, Hallux valgus, Hydrocephalus, De... OMIM:245600
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wormian bones, Short femur, Short nose, Pleural effusion, Limb undergrowth, Decreased fibular dia... OMIM:616897
Xeroderma Pigmentosum, Complementation Group B
Neoplasm, Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma of the skin OMIM:610651
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Aplasia of the 1st metacarpal, Hypoplasia of the ulna, Wide nasal bridge, Clinodactyly of the 5th... OMIM:600123
Dyskeratosis Congenita, X-Linked
Cryptorchidism, Cirrhosis, Myelodysplasia, Carcinoma, Pulmonary fibrosis, Acute myeloid leukemia,... OMIM:305000
Johnson Neuroectodermal Syndrome
Carious teeth, Choanal stenosis, Conductive hearing impairment, Atresia of the external auditory ... OMIM:147770
Monosomy 22
Seborrheic dermatitis, Aplasia of the thymus, Meningioma, Gonadal neoplasm, Sarcoma, Schwannoma, ... ORPHA:96123
Rothmund-Thomson Syndrome, Type 2
Basal cell carcinoma, Cryptorchidism, Short nose, Osteosarcoma, Squamous cell carcinoma, Annular ... OMIM:268400
Peripheral Primitive Neuroectodermal Tumor
Pruritus, Ovarian neoplasm, Spinal cord tumor, Uterine neoplasm, Jaundice, Brain neoplasm, Pancre... ORPHA:370348
Trisomy 12P
Abnormality of the antihelix, Short nose, Downturned corners of mouth, Everted lower lip vermilio... ORPHA:1699
Mosaic Variegated Aneuploidy Syndrome
Abnormal lung lobation, Depressed nasal ridge, Frontal bossing, Holoprosencephaly, Low-set, poste... ORPHA:1052
Odontochondrodysplasia
Delayed eruption of teeth, Short nose, Frontal bossing, Bowing of the long bones, Death in infanc... ORPHA:166272
Teebi Hypertelorism Syndrome
Long philtrum, Craniosynostosis, Short nose, Frontal bossing, Dental crowding, Natal tooth, Ompha... OMIM:145420
Vacterl With Hydrocephalus
Anotia, Spina bifida, Hypoplasia of the radius, Arrhinencephaly, Esophageal atresia, Aqueductal s... ORPHA:3412
Orofaciodigital Syndrome Type 4
Split hand, Choanal atresia, Oral cleft, Aplasia/Hypoplasia of the tibia, Rectovaginal fistula, A... ORPHA:2753
Drug Rash With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Elevated hepatic transaminase, Interstitial pneumonitis, Thyroiditis, Erythro... ORPHA:139402
Acrofacial Dysostosis, Catania Type
Carious teeth, Short nose, Finger syndactyly, Low-set, posteriorly rotated ears, Abnormal palate ... ORPHA:1786
Proximal 16P11.2 Microduplication Syndrome
Frontal bossing, Smooth philtrum, Thin upper lip vermilion, Arachnodactyly, Microtia ORPHA:370079
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Recurrent skin infections, Squamous cell carcinoma ORPHA:89842
Trichothiodystrophy
Cryptorchidism, Recurrent bronchopulmonary infections, Conjunctivitis, Congenital exfoliative ery... ORPHA:33364
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Short nose, Conductive hearing impairment, Polydactyly, Low-set ears, Intrauterine growth retarda... OMIM:616910
Spinocerebellar Ataxia-Dysmorphism Syndrome
Short nose, Downturned corners of mouth, Low-set, posteriorly rotated ears, Thick vermilion borde... ORPHA:1185
Down Syndrome
Narrow palate, Narrow mouth, Downturned corners of mouth, Open mouth, Sandal gap, Depressed nasal... ORPHA:870
Tetraamelia-Multiple Malformations Syndrome
Narrow mouth, Abnormality of the larynx, Oral cleft, Anal atresia, Aplasia/Hypoplasia of the lung... ORPHA:3301
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Respiratory tract infection, Short nose, Macrotia, 2-3 toe syndactyly, Wide nasal bridge, Brachyc... OMIM:218000
Monosomy 9P
Anotia, Long philtrum, Abnormality of the antihelix, Postaxial hand polydactyly, Abnormality of t... ORPHA:261112
Alkuraya-Kucinskas Syndrome
Overlapping fingers, Talipes equinovarus, Cutaneous syndactyly, Short nose, Overlapping toe, Camp... OMIM:617822
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal femoral neck/head morphology, Long philtrum, Hemiatrophy of upper limb, Short nose, Down... ORPHA:163649
Achondrogenesis Type 1B
Long philtrum, Short nose, Frontal bossing, Umbilical hernia, Aplasia/Hypoplasia of the lungs, Sh... ORPHA:93298
Meier-Gorlin Syndrome 5
Long philtrum, Small earlobe, Prominent metopic ridge, Low-set ears, Clinodactyly, Patellar aplas... OMIM:613805
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Erythroderma, Pneumonia, Hepatitis, Recurrent pneumonia, Hepatosplenome... ORPHA:169160
3C Syndrome
Hand polydactyly, Short nose, Frontal bossing, Finger syndactyly, Intestinal malrotation, Recurre... ORPHA:7
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Holoprosencephaly, Esophageal atresia, Hearing impairment, Tracheoesophageal fistula ORPHA:77298
16P11.2P12.2 Microdeletion Syndrome
Camptodactyly of finger, Toe syndactyly, Bulbous nose, Open mouth, Absent nasal bridge, Short nos... ORPHA:261211
Foxg1 Syndrome Due To 14Q12 Microdeletion
Macroglossia, Abnormality of the antihelix, Bulbous nose, Short nose, Excessive salivation, Evert... ORPHA:261144
Oculocutaneous Albinism Type 1A
Basal cell carcinoma, Squamous cell carcinoma of the skin ORPHA:79431
Fibrochondrogenesis 1
Narrow mouth, Camptodactyly, Omphalocele, Depressed nasal bridge, Long philtrum, Wide anterior fo... OMIM:228520
Meckel Syndrome, Type 8
Postaxial hand polydactyly, Short nose, Polydactyly, Low-set ears, Cleft upper lip, Cleft palate,... OMIM:613885
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Basal cell carcinoma, Skin rash, Squamous cell carcinoma of the skin, Melanoma ORPHA:220295
Miller-Dieker Syndrome
Short nose, Omphalocele, Abnormality of upper lip, Clinodactyly of the 5th finger, Anteverted nares ORPHA:531
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Rocker bottom foot, Short philtrum, Short 5th finger, Broad skull, Underdeveloped nasal alae, 2-3... ORPHA:163979
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Small earlobe, Oligodontia, Bulbous nose, Aplasia of the distal phalanx of the 5th finger, Underd... ORPHA:364577
Codas Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Short nose, Abnormality of dental m... ORPHA:1458
Cousin Syndrome
Dislocated radial head, 4-5 toe syndactyly, Fibular aplasia, Toe syndactyly, Rhizomelia, Camptoda... OMIM:260660
Jaberi-Elahi Syndrome
Short nose, Abnormality of the dentition, Low-set ears, Triangular mouth, Protruding ear, Hand cl... OMIM:617988
Isolated Exencephaly
Abnormality of the calvaria, Holoprosencephaly, Low-set ears, Hypoplasia of the frontal bone, Dep... ORPHA:563612
Craniofacial-Deafness-Hand Syndrome
Camptodactyly of finger, Narrow mouth, Short nose, Depressed nasal ridge, Sensorineural hearing i... ORPHA:1529
Mismatch Repair Cancer Syndrome 1
Non-Hodgkin lymphoma, Basal cell carcinoma, Adenocarcinoma of the colon, Medulloblastoma, Neurobl... OMIM:276300
Lymphedema-Distichiasis Syndrome
Fibrosarcoma, Conjunctivitis, Tubulointerstitial nephritis, Abnormality of the pulmonary vasculat... ORPHA:33001
Achondrogenesis Type 1A
Long philtrum, Short nose, Frontal bossing, Umbilical hernia, Aplasia/Hypoplasia of the lungs, Sh... ORPHA:93299
Saethre-Chotzen Syndrome
Narrow palate, Lambdoidal craniosynostosis, Oxycephaly, Hallux valgus, Narrow nose, Convex nasal ... OMIM:101400
Treacher-Collins Syndrome
Open bite, Abnormal dental enamel morphology, Narrow mouth, Narrow internal auditory canal, Choan... ORPHA:861
Smith-Lemli-Opitz Syndrome
Dental crowding, Pyloric stenosis, Intestinal malrotation, Metatarsus adductus, Short thumb, Hydr... OMIM:270400
Pachydermoperiostosis
Seborrheic dermatitis, Osteomyelitis, Elevated circulating growth hormone concentration, Eczemato... ORPHA:2796
Mycophenolate Mofetil Embryopathy
Anotia, Hydrocephalus, Atresia of the external auditory canal, Tracheomalacia, Oral cleft, Hearin... ORPHA:268249
Tetrasomy 5P
Short hallux, Long philtrum, Talipes equinovarus, Short nose, Overlapping toe, Wide anterior font... ORPHA:3309
Pterygium Colli, Isolated
Protruding ear, Short nose OMIM:177990
Nabais Sa-De Vries Syndrome, Type 1
Thickened helices, Bulbous nose, Short nose, Smooth philtrum, Hearing impairment, Brachycephaly, ... OMIM:618828
Charge Syndrome
Abnormality of tibia morphology, Narrow mouth, Overfolded helix, Choanal atresia, Depressed nasal... ORPHA:138
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Omphalocele, Anal atresia, Aplasia/Hypoplasia of the lungs, Gingival overgrowth, A... ORPHA:1834
Holoprosencephaly 2
Median cleft lip and palate, Absent nasal septal cartilage, Midface retrusion, Holoprosencephaly,... OMIM:157170
14Q24.1Q24.3 Microdeletion Syndrome
Long philtrum, Dislocated radial head, Short nose, Midface retrusion, Intestinal malrotation, Smo... ORPHA:401935
Al-Raqad Syndrome
Short nose, Narrow mouth, Sandal gap, Thin upper lip vermilion, Low-set ears, Brachydactyly OMIM:616459
Baraitser-Winter Syndrome 1
Long philtrum, Short nose, Overfolded helix, Midface retrusion, Duplication of phalanx of hallux,... OMIM:243310
C Syndrome
Omphalocele, Trigonocephaly, High palate, Dislocated radial head, Postaxial hand polydactyly, Lim... OMIM:211750
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Hypoplasia of teeth, Recurrent otitis media, Abnormality of the outer ear, Hearing impairment, Cl... ORPHA:2728
Meier-Gorlin Syndrome 4
Narrow mouth, Emphysema, Low-set ears, Patellar aplasia, Intrauterine growth retardation, Thick l... OMIM:613804
Peutz-Jeghers Syndrome
Ovarian cyst, Precocious puberty with Sertoli cell tumor, Nasal polyposis, Biliary tract abnormal... OMIM:175200
Acrocallosal Syndrome
Thin vermilion border, Hypoplasia of teeth, Open mouth, Rectovaginal fistula, Triangular mouth, H... OMIM:200990
Fetal Alcohol Syndrome
Biparietal narrowing, Short nose, Low-set, posteriorly rotated ears, Smooth philtrum, Non-midline... ORPHA:1915
Pallister-Hall Syndrome
Broad thumb, Atresia of the external auditory canal, Natal tooth, 3-4 finger cutaneous syndactyly... ORPHA:672
Temtamy Preaxial Brachydactyly Syndrome
Oligodontia, Tarsal synostosis, Narrow mouth, Partial duplication of the proximal phalanx of the ... ORPHA:363417
Tetrasomy 18P
Long philtrum, Thin vermilion border, Narrow mouth, Short nose, Low-set, posteriorly rotated ears... ORPHA:3307
Tetrasomy 12P
Long philtrum, Delayed eruption of teeth, Abnormal soft palate morphology, Downturned corners of ... ORPHA:884
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Downturned corners of mouth, Dental crowding, Overfolded helix, Camptodactyly, Choanal atresia, S... OMIM:301044
Chromosome 14Q11-Q22 Deletion Syndrome
Long philtrum, Narrow mouth, Short nose, Abnormality of the pinna, Plagiocephaly, Low-set ears, H... OMIM:613457
Helsmoortel-Van Der Aa Syndrome
Long philtrum, Advanced eruption of teeth, Short nose, Low-set, posteriorly rotated ears, Everted... OMIM:615873
Orofaciodigital Syndrome Xiv
Holoprosencephaly, Natal tooth, Hamartoma of tongue, Postaxial polydactyly, Preaxial polydactyly,... OMIM:615948
Grfoma
Intestinal carcinoid, Subcutaneous lipoma, Adrenocortical adenoma, Elevated circulating growth ho... ORPHA:97261
Donnai-Barrow Syndrome
Short nose, Wide anterior fontanel, Intestinal malrotation, Omphalocele, Umbilical hernia, Poster... ORPHA:2143
Phocomelia, Schinzel Type
Radial bowing, Hypoplasia of the radius, Abnormality of tibia morphology, Humeroradial synostosis... ORPHA:2879
Congenital Erythropoietic Porphyria
Pruritus, Scleritis, Seborrhoeic blepharitis, Recurrent bacterial skin infections, Squamous cell ... ORPHA:79277
Dermotrichic Syndrome
Short nose, Frontal bossing, Macrotia, Aganglionic megacolon, Depressed nasal bridge ORPHA:99688
Smith-Kingsmore Syndrome
Long philtrum, Short proximal phalanx of finger, Short nose, Open mouth, Wide anterior fontanel, ... OMIM:616638
Distal Monosomy 10Q
Craniosynostosis, Short metatarsal, Sandal gap, Spina bifida occulta, High palate, Prominent fing... ORPHA:96148
Kaposi Sarcoma
Skin rash, Lymphoproliferative disorder, Hemangioma, Abnormal lung morphology, Neoplasm of the sk... ORPHA:33276
Diabetes Insipidus, Neurohypophyseal
Long philtrum, Short nose, Wide nose OMIM:125700
Nablus Mask-Like Facial Syndrome
Long philtrum, Craniosynostosis, Narrow mouth, Short nose, Frontal bossing, Camptodactyly, Smooth... OMIM:608156
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Neuroendocrine neoplasm, Thyroid carcinoma, Th