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
Anteverted nares, Short nose, Clinodactyly of the 5th finger, Omphalocele 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
Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel... OMIM:606719
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Perifolliculitis, Acne inversa, Squamous cell carcinoma, Recurrent cutaneou... OMIM:613736
Tumor Predisposition Syndrome 1
Lung adenocarcinoma, Cutaneous melanoma, Malignant mesothelioma, Renal cell carcinoma, Uveal mela... OMIM:614327
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Li-Fraumeni Syndrome 2
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma OMIM:609265
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma, Pruritus ORPHA:79152
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
Squamous cell carcinoma, Basal cell carcinoma OMIM:618267
Cerebral Sarcoma
Neoplasm, Fibrosarcoma OMIM:117600
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... OMIM:151623
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... ORPHA:443167
Lung Cancer
Lung adenocarcinoma, Non-small cell lung carcinoma, Alveolar cell carcinoma OMIM:211980
Cheilitis Glandularis
Squamous cell carcinoma, Neoplasm, Abnormal salivary gland morphology ORPHA:1221
Hyperkeratosis Lenticularis Perstans
Squamous cell carcinoma, Basal cell carcinoma, Pruritus ORPHA:409
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:166000
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
Epidermodysplasia Verruciformis
Pustule, Recurrent skin infections, Squamous cell carcinoma, Seborrheic dermatitis, Verrucae ORPHA:302
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Squamous cell carcinoma, Multinodular goiter OMIM:618373
Schopf-Schulz-Passarge Syndrome
Squamous cell carcinoma, Basal cell carcinoma, Poroma, Apocrine hidrocystoma OMIM:224750
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Atopic dermatitis, Anal canal squamous carcinoma, Chronic ot... ORPHA:217390
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Acquired Ichthyosis
Neoplasm, Multiple myeloma, Recurrent skin infections, Lymphoma, Pruritus, Sarcoma ORPHA:454
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Abnormality of the peritoneum ORPHA:2023
Xeroderma Pigmentosum Variant
Squamous cell carcinoma, Keratitis, Melanoma, Basal cell carcinoma ORPHA:90342
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Duodenal adenocarcinoma,... ORPHA:454840
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Unilateral vestibular schwannoma, Carcinoma OMIM:603641
Desmoid Disease, Hereditary
Desmoid tumors, Colon cancer, Colorectal polyposis, Breast carcinoma OMIM:135290
Pancreatic Cancer, Susceptibility To, 5
Melanoma, Pancreatic adenocarcinoma OMIM:618680
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:614569
Schöpf-Schulz-Passarge Syndrome
Squamous cell carcinoma, Basal cell carcinoma, Ovarian neoplasm ORPHA:50944
Holoprosencephaly 5
High palate, Hydrocephalus, Trigonocephaly, Alobar holoprosencephaly, Holoprosencephaly, Syntelen... OMIM:609637
Verrucous Hemangioma
Papilloma, Hemangioma, Inflammatory abnormality of the skin ORPHA:464318
Paget Disease, Extramammary
Neoplasm, Eczematoid dermatitis OMIM:167300
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Ichthyosis, Hystrix-Like, With Deafness
Squamous cell carcinoma, Punctate keratitis, Erythroderma OMIM:602540
Hereditary Breast And Ovarian Cancer Syndrome
Neoplasm of the pancreas, Ovarian neoplasm, Breast carcinoma, Prostate cancer, Melanoma, Primary ... ORPHA:145
Bazex Syndrome
Lung adenocarcinoma, Neoplasm, Liposarcoma, Pruritus ORPHA:166113
Epidermodysplasia Verruciformis, Susceptibility To, 2
Squamous cell carcinoma of the skin, Verruca plana OMIM:618231
Progressive Osseous Heteroplasia
Osteoarthritis, Abnormality of the parathyroid gland, Sarcoma ORPHA:2762
Oral Submucous Fibrosis
Oropharyngeal squamous cell carcinoma, Cheilitis ORPHA:357154
Serrated Polyposis Syndrome
Adenomatous colonic polyposis, Hodgkin lymphoma, Ovarian neoplasm, Breast carcinoma, Prostate can... ORPHA:157798
Necrobiosis Lipoidica
Squamous cell carcinoma, Inflammatory abnormality of the skin ORPHA:542592
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Burkitt lymphoma, Multiple myeloma, Hodgkin lymphoma, B-cell lymphoma, Prostate cancer, Hepatic f... ORPHA:158057
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma, Colorectal polyposis, Carcinoma OMIM:612591
Paraneoplastic Pemphigus
Thymoma, B-cell lymphoma, Sarcoma ORPHA:63455
Li-Fraumeni Syndrome
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... ORPHA:524
Acalvaria
Hydrocephalus, Calvarial skull defect, Cleft palate, Holoprosencephaly, Postaxial hand polydactyl... ORPHA:945
Large Congenital Melanocytic Nevus
Neoplasm, Cutaneous melanoma, Rhabdomyosarcoma, Pruritus, Sarcoma, Neoplasm of the skin ORPHA:626
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilic infiltration of the esophagus, Eczema, Atopic dermatitis, Squamous cell carcinoma, R... OMIM:243700
Chronic Actinic Dermatitis
Actinic keratosis, Eczema, Allergic rhinitis, Late onset atopic dermatitis, Pruritus, Erythroderma ORPHA:330064
Xeroderma Pigmentosum, Variant Type
Keratitis, Cutaneous melanoma, Squamous cell carcinoma, Basal cell carcinoma, Conjunctivitis OMIM:278750
Maffucci Syndrome
Chondrosarcoma, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Breast carcinoma, Exost... ORPHA:163634
Ollier Disease
Chondrosarcoma, Neoplasm, Lymphangioma, Hemangioma, Multiple enchondromatosis, Sarcoma, Visceral ... ORPHA:296
Epidermodysplasia Verruciformis, X-Linked
Squamous cell carcinoma of the skin, Verrucae OMIM:305350
Punctate Palmoplantar Keratoderma Type 1
Esophageal neoplasm, Hodgkin lymphoma, Breast carcinoma, Stomach cancer, Prostate cancer, Melanom... ORPHA:79501
Hartsfield Syndrome
Cleft palate, Craniosynostosis, Depressed nasal bridge, Low-set, posteriorly rotated ears, Aplasi... ORPHA:2117
Pityriasis Rubra Pilaris
Neoplasm, Pustule, Eczema, Pruritus, Erythroderma ORPHA:2897
Xeroderma Pigmentosum, Complementation Group F
Keratoacanthoma, Squamous cell carcinoma, Basal cell carcinoma, Neoplasm of the skin, Seborrheic ... OMIM:278760
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Mast Cell Sarcoma
Sarcoma, Hepatomegaly, Splenomegaly ORPHA:66661
Papillon-Lefèvre Syndrome
Periodontitis, Chronic furunculosis, Pustule, Recurrent skin infections, Melanoma, Neoplasm of th... ORPHA:678
Palmoplantar Carcinoma, Multiple Self-Healing
Squamous cell carcinoma, Carcinoma OMIM:615225
Liposarcoma
Sarcoma ORPHA:69078
Cutaneous Neuroendocrine Carcinoma
Multiple myeloma, Carcinoid tumor, Lymphoid leukemia, Basal cell carcinoma, Neoplasm of the outer... ORPHA:79140
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma, Pulmonary fibrosis, Emphysema OMIM:618913
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Conductive Deafness-Malformed External Ear Syndrome
High palate, Conductive hearing impairment, Abnormal pinna morphology, Sensorineural hearing impa... ORPHA:3216
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus, Abnormal pinna morphology, Microtia, Frontal bossing, Short nose, Low-set ears, Ag... OMIM:613603
Porokeratosis
Squamous cell carcinoma of the skin, Pruritus ORPHA:79358
Familial Melanoma
Neoplasm of the pancreas, Melanoma, Neoplasm of the stomach, Neoplasm of the breast ORPHA:618
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Acne Inversa, Familial, 3
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation OMIM:613737
Infantile Myofibromatosis
Neoplasm of the pancreas, Neoplasm of the lung, Gingival fibromatosis, Fibroma, Benign neoplasm o... ORPHA:2591
Craniosynostosis, Herrmann-Opitz Type
Abnormal antihelix morphology, Convex nasal ridge, Cleft palate, Microtia, Craniosynostosis, Micr... ORPHA:2145
Epidermodysplasia Verruciformis, Susceptibility To, 5
Squamous cell carcinoma of the skin, Verrucae OMIM:618309
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Short distal phalanx of finger, Hydrocephalus, Macroglossia, Microtia, Depresse... ORPHA:1914
Chromosome 3Q13.31 Deletion Syndrome
High palate, Plagiocephaly, Alobar holoprosencephaly, High, narrow palate, Dolichocephaly, Macrot... OMIM:615433
Mosaic Trisomy 14
High palate, Ectopic anus, Cleft palate, Microtia, Camptodactyly of finger, Low-set, posteriorly ... ORPHA:1703
Multiple Endocrine Neoplasia, Type Iv
Pituitary adenoma, Elevated circulating growth hormone concentration, Parathyroid adenoma, Carcin... OMIM:610755
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Brachycephaly, Short distal phalanx of finger, Short toe, Attached earlobe, Microtia... ORPHA:1327
Hyperparathyroidism 2 With Jaw Tumors
Hurthle cell thyroid adenoma, Parathyroid adenoma, Parathyroid carcinoma, Nephroblastoma, Renal c... OMIM:145001
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ovarian neoplasm, Hepatomegaly, Neoplasm of the central nervous system,... ORPHA:83469
Recurrent Respiratory Papillomatosis
Squamous cell carcinoma, Abnormal lung morphology, Recurrent upper respiratory tract infections, ... ORPHA:60032
Distal Monosomy 7Q36
Bulbous nose, Clinodactyly of the 5th finger, Cleft palate, Holoprosencephaly, Symphalangism affe... ORPHA:1636
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology, Glucagonoma ORPHA:438274
Microhydranencephaly, X-Linked
Intrauterine growth retardation, Holoprosencephaly OMIM:306990
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Short palm, Hydrocephalus, Microtia, Craniosynostosis, Depressed nasal bridge, Radioulnar synosto... ORPHA:171839
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Cleft palate, Holoprosencephal... ORPHA:1908
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Holoprosencephaly, Short femur, Anterior encephalocele, Bilateral cleft lip and palate, Omphaloce... OMIM:601357
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... ORPHA:247806
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Microtia, Neonatal death, Congenital pyloric atresia, Anteverted nares, Underdeveloped nasal alae OMIM:612138
Glioma Susceptibility 9
Glioma, Renal neoplasm, Neoplasm of the lung, Leukemia, Astrocytoma OMIM:616568
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
High palate, Sensorineural hearing impairment, Abnormal pinna morphology, Conductive hearing impa... OMIM:618500
Acrocephalopolydactyly
Depressed nasal ridge, Microtia, Brachydactyly, Limb undergrowth, Short nose, Oxycephaly ORPHA:221054
Isotretinoin Syndrome
Cleft palate, Microtia, Depressed nasal bridge, Spina bifida occulta, Abnormality of the outer ea... ORPHA:2305
Yellow Nail Syndrome
Neoplasm, Sinusitis, Renal neoplasm, Neoplasm of the lung, Pleuritis, Biliary tract neoplasm, Bro... ORPHA:662
Bullous Diffuse Cutaneous Mastocytosis
Erythroderma, Cutaneous mastocytosis, Pruritus ORPHA:280785
Asbestos Intoxication
Interlobular septal thickening, Lung adenocarcinoma, Pleural thickening, Subpleural honeycombing,... ORPHA:2302
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
High palate, Conductive hearing impairment, Clinodactyly of the 5th finger, Microtia, Joint contr... OMIM:248910
Holoprosencephaly, Recurrent Infections, And Monocytosis
Short toe, Abnormal pinna morphology, Holoprosencephaly, Brachydactyly, Tapered finger, Brachycep... OMIM:610680
Familial Adenomatous Polyposis 1
Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade... OMIM:175100
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Squamous cell carcinoma of the skin ORPHA:85112
Werner Syndrome
Neoplasm, Acral lentiginous melanoma, Ovarian neoplasm, Thyroid carcinoma, Renal neoplasm, Cutane... ORPHA:902
Holoprosencephaly 7
Hydrocephalus, Alobar holoprosencephaly, Parietal bossing, Holoprosencephaly, Depressed nasal tip... OMIM:610828
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormal antihelix morphology, Large earlobe, Conductive hearing impairment, Cleft palate, Microt... ORPHA:79113
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Skin rash, Gastrointestinal s... ORPHA:44890
Vissers-Bodmer Syndrome
Intrauterine growth retardation, Tapered finger, Holoprosencephaly OMIM:619033
Monosomy 18P
Abnormal antihelix morphology, Protruding ear, Cleft palate, Holoprosencephaly, Brachydactyly, Ma... ORPHA:1598
Genitourinary And/Or Brain Malformation Syndrome
Acrania, Protruding ear, Holoprosencephaly, Syndactyly, Aplasia of the nasal bone, Short nose, Om... OMIM:618820
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Adducted thumb, Holoprosencephaly, Camptodactyly of finger, Low-set ears, Hydranencephaly, Intrau... ORPHA:2570
Thanatophoric Dysplasia Type 2
Hydrocephalus, Holoprosencephaly, Encephalocele, Depressed nasal bridge, Micromelia, Brachydactyl... ORPHA:93274
Exostoses, Multiple, Type Ii
Chondrosarcoma, Scapular exostoses, Multiple exostoses, Rib exostoses, Pelvic bone exostoses OMIM:133701
Exostoses, Multiple, Type I
Chondrosarcoma, Scapular exostoses, Multiple exostoses, Rib exostoses, Pelvic bone exostoses OMIM:133700
Chromomycosis
Keratitis, Multiple cutaneous malignancies, Squamous cell carcinoma, Pruritus, Abnormal lung morp... ORPHA:182
Au-Kline Syndrome
High palate, Overlapping toe, Cleft palate, Microtia, Craniosynostosis, Dolichocephaly, Postaxial... OMIM:616580
Lambotte Syndrome
Preaxial foot polydactyly, Convex nasal ridge, Atresia of the external auditory canal, Macrotia, ... OMIM:245552
Rhabdoid Tumor
Neoplasm of the central nervous system, Neoplasm of the liver, Sarcoma, Renal neoplasm ORPHA:69077
Chromosome 1Q41-Q42 Deletion Syndrome
High palate, Talipes equinovarus, Cleft palate, Holoprosencephaly, Microtia, Broad nasal tip, Dep... OMIM:612530
Gardner Syndrome
Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci... ORPHA:79665
Microtia
Abnormal pinna morphology, Microtia, Holoprosencephaly, Anotia, Atresia of the external auditory ... ORPHA:83463
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Anteverted nares, Short nose, Low-set, posteriorly rotated ears, Cleft palate ORPHA:2015
Zechi-Ceide Syndrome
Short distal phalanx of finger, Conductive hearing impairment, Abnormal helix morphology, Cleft p... ORPHA:217017
Catifa Syndrome
Cleft palate, Inguinal hernia, Microtia, Delayed eruption of teeth, Camptodactyly, Anteverted nares OMIM:618761
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Hydranencephaly, Holoprosencephaly OMIM:617967
Short Stature-Obesity Syndrome
Clinodactyly of the 5th finger, Microtia, Brachydactyly, Narrow nose, Micromelia, Limb undergrowt... OMIM:269870
Sézary Syndrome
Cutaneous T-cell lymphoma, Hepatomegaly, Splenomegaly, Lymphoma, Abnormal pleura morphology, Prur... ORPHA:3162
Ring Chromosome 8 Syndrome
Round ear, Deviation of finger, Frontal bossing, Short nose, Anteverted nares ORPHA:1450
Huriez Syndrome
Squamous cell carcinoma of the skin OMIM:181600
17Q21.31 Microduplication Syndrome
High palate, Clinodactyly of the 5th finger, Short nose, Sandal gap, Anteverted nares, Abnormalit... ORPHA:217340
Chilblain Lupus
Pruritis on hand, Discoid lupus rash, Inflammatory abnormality of the skin, Skin rash, Chronic my... ORPHA:90280
Oculoauriculofrontonasal Syndrome
Conductive hearing impairment, Cleft palate, Microtia, Bifid nasal tip, Wide nose, Encephalocele,... ORPHA:398156
Mycosis Fungoides
Eczema, Neoplasm of the skin, Lymphoma, Pruritus, Psoriasiform dermatitis OMIM:254400
Adenylosuccinate Lyase Deficiency
Short nose, Flat occiput, Anteverted nares, Low-set ears, Brachycephaly ORPHA:46
1Q41Q42 Microdeletion Syndrome
Talipes equinovarus, Cleft palate, Holoprosencephaly, Broad nasal tip, Depressed nasal bridge, Fr... ORPHA:250999
Mental retardation, x-linked, syndromic, Turner type
Tapered finger, Holoprosencephaly OMIM:300706
Endocrine-Cerebroosteodysplasia
Hydrocephalus, Abnormal pinna morphology, Ulnar deviation of the hand, Cleft palate, Holoprosence... OMIM:612651
Cebalid Syndrome
High palate, Abnormal pinna morphology, Plagiocephaly, Depressed nasal ridge, Platystencephaly, D... OMIM:618774
Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Papilloma, Large intestinal polyposis, Duodenal polyposis, Adenoca... ORPHA:220460
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Stapes ankylosis, Coxa vara, Clinodactyly of the 5th finger, Velopharyngeal insufficiency, 2-3 to... OMIM:614701
Beta-Mercaptolactate Cysteine Disulfiduria
High palate, Convex nasal ridge, Hypoplasia of the ear cartilage, Arachnodactyly, Micromelia, Low... ORPHA:1035
Fanconi Anemia, Complementation Group P
Squamous cell carcinoma, Cryptorchidism OMIM:613951
Distal Monosomy 9P
Abnormal antihelix morphology, Trigonocephaly, Abnormal helix morphology, High, narrow palate, Cl... ORPHA:1642
Simpson-Golabi-Behmel Syndrome, Type 2
High palate, Talipes equinovarus, Scaphocephaly, Inguinal hernia, Cleft palate, Dolichocephaly, R... OMIM:300209
Pemphigus Foliaceus
Pustule, Psoriasiform dermatitis, Hematological neoplasm, Crusting erythematous dermatitis, Pruri... ORPHA:79481
Congenital Disorder Of Glycosylation, Type Iig
High palate, Talipes equinovarus, Cleft palate, Microtia, Small hand, Low-set, posteriorly rotate... OMIM:611209
Non-Distal Trisomy 10Q
High palate, Convex nasal ridge, Depressed nasal bridge, Low-set, posteriorly rotated ears, Front... ORPHA:1695
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Fibrosarcoma, Peritonitis, Pleural effusion, Ovarian fibroma, Abnormality... ORPHA:314478
Triploidy
Hydrocephalus, Cleft palate, Holoprosencephaly, Macroglossia, Intestinal malrotation, Low-set, po... ORPHA:3376
Milroy Disease
Hydrocele testis, Angiosarcoma, Erysipelas, Neoplasm of the skin ORPHA:79452
Nabais Sa-De Vries Syndrome, Type 2
High palate, Bulbous nose, Protruding ear, Clinodactyly of the 5th finger, Microtia, Depressed na... OMIM:618829
17P13.3 Microduplication Syndrome
High palate, Clinodactyly of the 5th finger, Inguinal hernia, Frontal bossing, Wide nose, Short n... ORPHA:217385
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Ectopic anus, Short distal phalanx of finger, Cleft palate, Microtia, Arachnodactyly, Camptodacty... ORPHA:2994
Kid Syndrome
Keratitis, Recurrent bacterial skin infections, Posterior blepharitis, Folliculitis, Recurrent cu... ORPHA:477
Agnathia-Otocephaly Complex
Low-set ears, Conductive hearing impairment, Cleft palate, Holoprosencephaly, Wide nose, Aglossia... OMIM:202650
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
High palate, Depressed nasal bridge, Short nose, Anteverted nares, Low-set ears OMIM:614069
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Microtia, Hypoplasia of the ulna, Flat occiput, Wide nose, Thick nasal alae, Clinodactyly, Low-se... ORPHA:357175
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Holoprosencephaly ORPHA:2523
Microcephaly 6, Primary, Autosomal Recessive
Bifid nasal tip, Microtia OMIM:608393
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Aplasia/Hypoplasia involving the nose, Holoprosencephaly, Low-set, posteriorly rotated ears, Syno... ORPHA:990
Xeroderma Pigmentosum, Complementation Group E
Keratitis, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Conjunctivitis OMIM:278740
Treacher Collins Syndrome 2
Conductive hearing impairment, Cleft palate, Microtia, Choanal atresia, Choanal stenosis OMIM:613717
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatitis, Hepatoblastoma, Stomach cancer, Soft tissue neoplasm, Odontoma,... ORPHA:733
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Squamous cell carcinoma, Keratitis, Recurrent bacterial skin infections, Keratoconjunctivitis sicca OMIM:148210
Even-Plus Syndrome
High palate, Anal atresia, Depressed nasal ridge, Microtia, Bifid nasal tip, Short nose, Brachyce... OMIM:616854
Mullegama-Klein-Martinez Syndrome
Sensorineural hearing impairment, Bulbous nose, Clinodactyly of the 5th finger, Cleft palate, Mic... OMIM:301022
Intellectual Developmental Disorder, Autosomal Recessive 35
Microtia, Hypoplasia of the ulna, Flat occiput, Wide nose, Thick nasal alae, Clinodactyly, Low-se... OMIM:615162
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Short nose, Median cleft lip and palate, Posteriorly rotated ears, Antever... ORPHA:1832
Pancreatic Agenesis-Holoprosencephaly Syndrome
High palate, Abnormal pinna morphology, Holoprosencephaly, Prominent occiput, Aplasia/Hypoplasia ... ORPHA:556955
Holoprosencephaly-Caudal Dysgenesis Syndrome
Cleft palate, Holoprosencephaly, Radial club hand, Abnormal morphology of the radius, Low-set ears ORPHA:2165
Meckel Syndrome, Type 8
Talipes equinovarus, Cleft palate, Depressed nasal ridge, Encephalocele, Polydactyly, Postaxial h... OMIM:613885
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification OMIM:608189
Sweeney-Cox Syndrome
High palate, Anal atresia, Cleft palate, Microtia, Overfolded helix, Cupped ear, Cutaneous syndac... OMIM:617746
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Hydrocephalus, Metaphyseal... OMIM:300863
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Conjunctival hamartoma ORPHA:312
Acrofacial Dysostosis, Rodríguez Type
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Aqueductal stenosis, Hand oligodactyly, Micr... ORPHA:1788
Coxoauricular Syndrome
Hearing impairment, Microtia OMIM:122780
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Myelodysplasia, Eczema, Acute myeloid leukemia, Lymphoma OMIM:616871
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Squamous cell carcinoma, Conjunctivitis OMIM:226600
Legius Syndrome
Ovarian neoplasm, Acute monocytic leukemia, Desmoid tumors, Nephroblastoma, Multiple lipomas, Ves... ORPHA:137605
Cortical Blindness, Retardation, And Postaxial Polydactyly
Frontal bossing, Short nose OMIM:218010
Robinow Syndrome, Autosomal Recessive 2
Broad nasal tip, Brachydactyly, Midface retrusion, Camptodactyly, Frontal bossing, Short nose, Me... OMIM:618529
Mental Retardation, X-Linked 91
High palate, Small hand, Short 5th finger, Short nose, Short foot, Clinodactyly OMIM:300577
Distal Monosomy 13Q
Anal atresia, Holoprosencephaly, Anencephaly, Abnormal metacarpal morphology, Encephalocele, Apla... ORPHA:1590
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
High palate, Bulbous nose, Brachydactyly, Camptodactyly, Hearing impairment, Short nose, Posterio... OMIM:613604
Chromosome 16P13.3 Duplication Syndrome
Bulbous nose, Protruding ear, Short toe, Short phalanx of finger, Tapered finger, Long fingers, C... OMIM:613458
Pfeiffer Syndrome Type 1
High palate, Aplasia/Hypoplasia of the thumb, Aqueductal stenosis, Depressed nasal bridge, Broad ... ORPHA:93258
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microtia, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Frontal bos... ORPHA:2547
Parenti-Mignot Neurodevelopmental Syndrome
Prominent nasal tip, Microtia, Craniosynostosis, Cupped ear, Frontal bossing, Posteriorly rotated... OMIM:619873
Birt-Hogg-Dube Syndrome
Fibrofolliculoma, Renal neoplasm, Multiple pulmonary cysts, Large intestinal polyposis, Multiple ... OMIM:135150
Pallister-Hall Syndrome
Cleft palate, Depressed nasal bridge, Y-shaped metacarpals, Short nose, Anteriorly placed anus, I... OMIM:146510
Wilson-Turner Syndrome
Microtia, Small hand, Broad nasal tip, Tapered finger, Short foot ORPHA:3459
6Q16 Microdeletion Syndrome
Bulbous nose, Microtia, Depressed nasal bridge, Tapered finger, Abnormal ear morphology, Antevert... ORPHA:171829
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus, Depressed nasal ridge, Metaphyseal cupping of metacarpals, Frontal bossing, Short ... ORPHA:163966
Tarp Syndrome
High palate, Talipes equinovarus, Cleft palate, Microtia, Glossoptosis, Hypoplasia of the radius,... OMIM:311900
Xeroderma Pigmentosum, Complementation Group C
Keratitis, Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Conjunc... OMIM:278720
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Opsoclonus-Myoclonus Syndrome
Neoplasm, Neuroblastoma, Breast carcinoma, Ovarian teratoma, Melanoma, Small cell lung carcinoma,... ORPHA:1183
Mandibulofacial Dysostosis, Guion-Almeida Type
Conductive hearing impairment, Trigonocephaly, Slender finger, Cleft palate, Microtia, Overfolded... OMIM:610536
16P13.11 Microdeletion Syndrome
Sensorineural hearing impairment, Talipes equinovarus, Cleft palate, Holoprosencephaly, Depressed... ORPHA:261236
Desmoid Tumor
Desmoid tumors, Intestinal polyposis, Neoplasm of the skin, Fibroma ORPHA:873
Microtia-Anotia
Microtia, Anotia, Holoprosencephaly OMIM:600674
Iniencephaly
Myelomeningocele, Anal atresia, Hydrocephalus, Duodenal atresia, Low-set ears, Talipes equinovaru... ORPHA:63259
Adrenocortical Carcinoma
Lung adenocarcinoma, Adrenocortical carcinoma, Adrenocorticotropic hormone deficiency ORPHA:1501
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Cleft palate, Microtia, Brachydactyly, Low-set, posteriorly rotated ears, Atresia of the external... ORPHA:1770
Trichothiodystrophy 1, Photosensitive
Squamous cell carcinoma, Basal cell carcinoma, Erythroderma, Keratoconjunctivitis sicca OMIM:601675
Familial Reactive Perforating Collagenosis
Inflammatory abnormality of the skin, Perifolliculitis, Maculopapular exanthema, Crusting erythem... ORPHA:79147
Pallister-Hall-Like Syndrome
Hydrocephalus, Cleft palate, Depressed nasal bridge, Micromelia, Postaxial hand polydactyly, Shor... OMIM:241800
Trisomy 18
Anal atresia, Intrauterine growth retardation, Narrow palate, Cleft palate, Holoprosencephaly, Do... ORPHA:3380
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Abnormal pinna morphology, Anencephaly, Lobulated tongue, Median cleft lip and pal... OMIM:269860
Clark-Baraitser Syndrome
High palate, Large earlobe, Low hanging columella, Dolichocephaly, Depressed nasal bridge, Short ... OMIM:617752
Holoprosencephaly, Semilobar, With Craniosynostosis
Short distal phalanx of finger, Coronal craniosynostosis, Semilobar holoprosencephaly, Coxa valga... OMIM:601370
49,Xxxxy Syndrome
Clinodactyly of the 5th finger, Talipes equinovarus, Depressed nasal ridge, Holoprosencephaly, Cl... ORPHA:96264
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly OMIM:611638
Microtia, Hearing Impairment, And Cleft Palate
Cleft palate, Microtia, Overfolded helix, Increased incisura length, Mixed hearing impairment, St... OMIM:612290
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Myeloproliferative disorder, Abnormality of the spleen, Pruritus, Erythroderma, Abn... ORPHA:79456
Gms Syndrome
Microtia, Small hand, Depressed nasal bridge, Short nose, Low-set ears, Short palm OMIM:138770
Treacher Collins Syndrome 3
Conductive hearing impairment, Abnormality of the outer ear, Cleft palate, Microtia OMIM:248390
Peutz-Jeghers Syndrome
Neoplasm of the rectum, Esophageal neoplasm, Neoplasm of the colon, Gastrointestinal carcinoma, N... ORPHA:2869
Intellectual Developmental Disorder, X-Linked 30
High palate, Hydrocephalus, Prominent fingertip pads, Short nose, Macrotia, Anteverted nares, Pro... OMIM:300558
Holoprosencephaly 11
Cleft palate, Holoprosencephaly OMIM:614226
Chromosome 6Q11-Q14 Deletion Syndrome
High palate, Abnormal pinna morphology, Inguinal hernia, Broad nasal tip, Short nose, Umbilical h... OMIM:613544
Mandibulofacial Dysostosis With Alopecia
Conductive hearing impairment, Protruding ear, Cleft palate, Microtia, Glossoptosis, Stenosis of ... OMIM:616367
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Low-set, posteriorly rotated ears, Abnormal metaca... ORPHA:2370
Femoral-Facial Syndrome
Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Cleft palate, Inguinal hernia, M... ORPHA:1988
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Frontal bossing, Microtia OMIM:618158
Meier-Gorlin Syndrome 8
Low-set ears, Intrauterine growth retardation, Microtia OMIM:617564
Disorder Of Sex Development-Intellectual Disability Syndrome
Microtia, Low-set, posteriorly rotated ears, Spina bifida occulta, Short nose, Genu valgum, Sever... ORPHA:2983
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Plagiocephaly, Microtia, Small hand, Tapered finger, Sandal gap, Clinodactyly, Short foot, Low-se... OMIM:618089
Oncogenic Osteomalacia
Giant cell tumor of bone, Neurofibromas, Osteosarcoma, Neoplasm of head and neck, Neoplasm of the... ORPHA:352540
Humeroradial Synostosis With Craniofacial Anomalies
Carpal synostosis, Plagiocephaly, Microtia, Small earlobe, Frontal bossing, Tarsal synostosis, Hu... OMIM:236410
Immunodeficiency 58
Colitis, Chronic bronchitis, Recurrent upper respiratory tract infections, Eczema, Chronic otitis... OMIM:618131
20P12.3 Microdeletion Syndrome
Microtia, Depressed nasal bridge, Broad hallux phalanx, Broad thumb, Thickened helices, Wide nasa... ORPHA:261295
Maxillonasal Dysplasia, Binder Type
Large earlobe, Short distal phalanx of finger, Depressed nasal bridge, Short nose, Short columella OMIM:155050
Hypertelorism-Microtia-Facial Clefting Syndrome
Conductive hearing impairment, Microtia, Bifid nose, Atresia of the external auditory canal, Bifi... ORPHA:2213
Holoprosencephaly-Craniosynostosis Syndrome
Short distal phalanx of finger, Plagiocephaly, Clinodactyly of the 5th finger, Craniosynostosis, ... ORPHA:2163
Branchiootic Syndrome 1
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... OMIM:602588
Monosomy 13Q14
Protruding ear, Trigonocephaly, Clinodactyly of the 5th finger, Finger syndactyly, Aplasia/Hypopl... ORPHA:1587
Saethre-Chotzen Syndrome
Abnormal antihelix morphology, Cleft palate, Craniosynostosis, Proximal radio-ulnar synostosis, D... ORPHA:794
Dermatomyositis
Lung adenocarcinoma, Neoplasm, Breast carcinoma, Gastrointestinal stroma tumor, Lymphoma, Abnorma... ORPHA:221
Bloom Syndrome
Recurrent upper respiratory tract infections, Lymphoma, Squamous cell carcinoma, Bronchiectasis, ... OMIM:210900
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Mastocytosis
Hepatomegaly, Splenomegaly, Sarcoma, Chronic leukemia, Pruritus, Acute leukemia ORPHA:98292
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma
Microtia OMIM:611863
Fetal Trimethadione Syndrome
High palate, Abnormal helix morphology, Overfolded helix, Depressed nasal bridge, Midface retrusi... ORPHA:1913
14Q11.2 Microdeletion Syndrome
High palate, Toe clinodactyly, Depressed nasal bridge, Low-set, posteriorly rotated ears, Short n... ORPHA:261120
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Anotia, Cleft palate, Microtia OMIM:243440
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Metaphyseal cupping, Microtia, Depressed nasal bridge, Micromelia, Frontal bossing, Short nose, W... OMIM:613320
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Plagiocephaly, Unilambdoid synostosis, Short nose, Clinodactyly, Anteverted nares,... OMIM:618577
Hemifacial Atrophy, Progressive
Microtia, Delayed eruption of teeth, Tongue atrophy OMIM:141300
Diabetic Embryopathy
Hydrocephalus, Cleft palate, Microtia, Low-set, posteriorly rotated ears, Frontal bossing, Spinal... ORPHA:1926
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
High palate, Overlapping toe, Talipes equinovarus, Arachnodactyly, Hyperextensibility of the fing... ORPHA:505237
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Metaphyseal dysplasia, Microtia, Long nose, Narrow nose, Frontal bossing, Posteriorly rotated ear... OMIM:618336
Distal Monosomy 17Q
Microtia, Small hand, Aplasia/Hypoplasia of the uvula, Micromelia, Low-set, posteriorly rotated e... ORPHA:1597
Microform Holoprosencephaly
Duodenal atresia, Cleft palate, Holoprosencephaly, Narrow nasal bridge, Short nose, Choanal atres... ORPHA:280200
Developmental And Epileptic Encephalopathy 73
Sensorineural hearing impairment, Inguinal hernia, Narrow nasal bridge, Short nose, Midface retru... OMIM:618379
Ring Chromosome 21 Syndrome
Small hand, Syndactyly, Clinodactyly, Holoprosencephaly ORPHA:1445
Retinoblastoma
Ewing sarcoma, Retinoblastoma, Lymphoma, Osteosarcoma, Leukemia, Pinealoma OMIM:180200
Rothmund-Thomson Syndrome
Skin rash, Melanoma, Squamous cell carcinoma, Myelodysplasia, Basal cell carcinoma, Malar rash, L... ORPHA:2909
Cowden Syndrome 1
Hydrocele testis, Thyroiditis, Breast carcinoma, Fibroadenoma of the breast, Ovarian cyst, Hamart... OMIM:158350
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Overlapping toe, Craniosynostosis, Microtia, Depressed nasal bridge, Femoral bowing, Short femora... OMIM:616723
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short toe, Cleft palate, Coronal craniosynostosis, Brachydactyly, Short nose, Genu valgum, Short ... OMIM:614078
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Conductive hearing impairment, Ectrodactyly, Microtia, Upper limb phocomelia, Abnormality of the ... ORPHA:2878
Omenn Syndrome
Hepatomegaly, Splenomegaly, Lymphoma, Pruritus, Pneumonia, Erythroderma, Thyroiditis ORPHA:39041
20Q11.2 Microduplication Syndrome
Severe intrauterine growth retardation, Abnormal nasal bridge morphology, Clinodactyly of the 5th... ORPHA:363659
Kerion Celsi
Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Recurrent skin infec... ORPHA:499
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Thymoma, Malignant genitourinary tract tumor, Hodgkin lymphoma, Uterine... ORPHA:71505
Perlman Syndrome
High, narrow palate, Inguinal hernia, Dolichocephaly, Short nose, Anteverted nares, Low-set ears,... ORPHA:2849
Weiss-Kruszka Syndrome
Horizontal crus of helix, Protruding ear, Clinodactyly of the 5th finger, Microtia, Overfolded he... OMIM:618619
Edinburgh Malformation Syndrome
Hydrocephalus, Slender finger, Long fingers, Ulnar deviation of finger, Frontal bossing, Short no... ORPHA:1895
Hypertelorism, Microtia, Facial Clefting Syndrome
Conductive hearing impairment, 2-3 toe syndactyly, Cleft palate, Microtia, Broad nasal tip, Short... OMIM:239800
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
High palate, Protruding ear, Talipes equinovarus, Inguinal hernia, Adducted thumb, Arachnodactyly... OMIM:615539
3-Hydroxyisobutyric Aciduria
Intrauterine growth retardation, Microtia ORPHA:939
Schilbach-Rott Syndrome
2-3 toe cutaneous syndactyly, Microtia, 3-4 finger cutaneous syndactyly, Long nose, Bifid uvula, ... OMIM:164220
Hemifacial Microsomia With Radial Defects
Conductive hearing impairment, Cleft palate, Microtia, Atresia of the external auditory canal, Tr... OMIM:141400
Pfeiffer Syndrome Type 2
High palate, Hydrocephalus, Cleft palate, Depressed nasal bridge, Short nose, Anal atresia, Broad... ORPHA:93259
Familial Colorectal Cancer Type X
Neoplasm of the rectum, Neoplasm of the colon, Neoplasm of the pancreas, Pituitary adenoma, Neuro... ORPHA:440437
Muir-Torre Syndrome
Malignant genitourinary tract tumor, Ovarian neoplasm, Benign gastrointestinal tract tumors, Brea... OMIM:158320
Pseudotrisomy 13 Syndrome
Anal atresia, Hydrocephalus, Low-set ears, 2-3 toe syndactyly, Holoprosencephaly, Postaxial hand ... OMIM:264480
Humeroradial Synostosis
Microtia, Small earlobe, Humeroradial synostosis, Brachycephaly, Wide nasal bridge OMIM:236400
Short Stature And Facioauriculothoracic Malformations
High palate, Cleft palate, Microtia, Overfolded helix, Cupped ear, Low-set ears OMIM:609654
Facial Paresis, Hereditary Congenital, 3
Sensorineural hearing impairment, Depressed nasal bridge, Midface retrusion, Short nose, Antevert... OMIM:614744
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Protruding ear, Camptodactyly of finger, Short nose, Death in infancy, Intrauterine growth retard... ORPHA:1495
Pleuropulmonary Blastoma
Pleuropulmonary blastoma, Rhabdomyosarcoma, Medulloblastoma OMIM:601200
Steinfeld Syndrome
Abnormal pinna morphology, Holoprosencephaly, Hypoplasia of the radius, Aplasia of the nose, Bifi... OMIM:184705
Johnson Neuroectodermal Syndrome
Conductive hearing impairment, Bulbous nose, Protruding ear, Cleft palate, Microtia, Atresia of t... ORPHA:2316
Combined Oxidative Phosphorylation Deficiency 25
Depressed nasal bridge, Short nose, Anteverted nares, Low-set ears, Wide nasal bridge OMIM:616430
Fg Syndrome Type 1
High palate, Hydrocephalus, Malrotation of colon, Craniosynostosis, Pyloric stenosis, Umbilical h... ORPHA:93932
Contractures-Developmental Delay-Pierre Robin Syndrome
Overlapping toe, Abnormality of finger, Talipes equinovarus, High, narrow palate, Cleft palate, I... ORPHA:436003
Potocki-Shaffer Syndrome
2-5 finger cutaneous syndactyly, Parietal foramina, Brachydactyly, Short nose, Brachycephaly, Und... OMIM:601224
Postaxial Acrofacial Dysostosis
Conductive hearing impairment, Abnormality of the middle ear, Cleft palate, Microtia, Hypoplasia ... ORPHA:246
Hereditary Leiomyomatosis And Renal Cell Cancer
Multiple cutaneous leiomyomas, Uterine leiomyosarcoma, Renal cell carcinoma, Cutaneous leiomyoma,... OMIM:150800
Rhiny
Anteverted nares, Short nose, Inguinal hernia OMIM:180360
Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome
Carcinoid tumor, Neurofibromas, Pheochromocytoma, Jaundice OMIM:162240
Intellectual Developmental Disorder, Autosomal Dominant 43
High palate, Low hanging columella, Attached earlobe, Microtia, Tapered finger, Umbilical hernia,... OMIM:616977
Lynch Syndrome
Neoplasm of the rectum, Neoplasm of the pancreas, Pituitary adenoma, Ovarian neoplasm, Neuroblast... ORPHA:144
Tetraploidy
Convex nasal ridge, Biparietal narrowing, Cleft palate, Hypoplasia of the ear cartilage, Radial c... ORPHA:3305
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Adducted thumb, Aqueductal stenosis, Holoprosencephaly ORPHA:2182
Holoprosencephaly 3
Cleft palate, Holoprosencephaly, Depressed nasal bridge, Bifid uvula, Abnormality of the nose, Sh... OMIM:142945
Pelvis-Shoulder Dysplasia
Dislocated radial head, Hydrocephalus, Abnormal pinna morphology, Talipes equinovarus, Cleft pala... ORPHA:2839
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Microtia, Depressed nasal bridge, Syndactyly, Camptodactyly, Intestinal lymphangiectasia, Hearing... OMIM:616006
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Frontal bossing, Short nose, Thick nasal alae, Low-set ears, Posteriorly rotated e... ORPHA:163961
Classic Mycosis Fungoides
Cutaneous T-cell lymphoma, Hepatomegaly, Skin rash, Splenomegaly, Eczema, Lymphoma, Pruritus, Neo... ORPHA:2584
Verloove Vanhorick-Brubakk Syndrome
Abnormality of femur morphology, Cleft palate, Microtia, Atresia of the external auditory canal, ... ORPHA:3429
Jacobsen Syndrome
Hydrocephalus, Trigonocephaly, Clinodactyly of the 5th finger, Holoprosencephaly, Depressed nasal... OMIM:147791
Isotretinoin-Like Syndrome
Hydrocephalus, Thin anteverted nares, Cleft palate, Inguinal hernia, Microtia, Anotia, Aplasia/Hy... ORPHA:2306
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Enterocolitis, Oropharyngeal squamous cell carcinoma, Recur... ORPHA:391487
Holoprosencephaly
Abnormal antihelix morphology, Hydrocephalus, Depressed nasal ridge, Depressed nasal tip, Median ... ORPHA:2162
Distal Trisomy 18Q
High palate, Clinodactyly of the 5th finger, Dolichocephaly, Arachnodactyly, Camptodactyly of fin... ORPHA:1716
19P13.3 Microduplication Syndrome
Cleft palate, Microtia, Long fingers, Posteriorly rotated ears, Prominent nose, Clinodactyly, Low... ORPHA:447980
Holoprosencephaly 14
Hydrocephalus, Alobar holoprosencephaly, Aqueductal stenosis, Cleft palate, Holoprosencephaly, Fr... OMIM:619895
Hereditary Acrokeratotic Poikiloderma
Pustule, Eczema, Keratoconjunctivitis, Squamous cell carcinoma, Transitional cell carcinoma of th... ORPHA:2907
Oculocutaneous Albinism Type 1B
Squamous cell carcinoma of the skin, Melanoma, Basal cell carcinoma ORPHA:79434
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Protruding ear, Clinodactyly of the 5th finger, Glossoptosis, Low-set, posteriorly rotated ears, ... ORPHA:2031
Pierpont Syndrome
Large fleshy ears, Short toe, Prominent fingertip pads, Broad nasal tip, Midface retrusion, Short... OMIM:602342
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Chromosome 13Q14 Deletion Syndrome
High palate, Overlapping toe, Bulbous nose, Clinodactyly of the 5th finger, Inguinal hernia, Holo... OMIM:613884
Meckel Syndrome 14
Holoprosencephaly, Postaxial polydactyly, Decreased calvarial ossification, Syndactyly, Postaxial... OMIM:619879
Intellectual Developmental Disorder, Fra12A Type
Recurrent lower respiratory tract infections, Erythroderma OMIM:136630
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Anal atresia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Microtia, Absent r... ORPHA:1352
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Decreased testicular size, Carcinoma, Laryngeal carcinoma OMIM:610644
Lambert-Eaton Myasthenic Syndrome
Keratoconjunctivitis sicca, Small cell lung carcinoma ORPHA:43393
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Testicular neoplasm, Neoplasm of the breast, Polycystic ovaries, Goiter, Sarcoma, Abnormal testis... ORPHA:457059
Microphthalmia With Limb Anomalies
Flared nostrils, High palate, Tibial bowing, Talipes equinovarus, Cleft palate, Hand oligodactyly... OMIM:206920
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Conductive hearing impairment, Depressed nasal bridge, Polydactyly, Short nose, Low-set ears, Int... OMIM:616910
Kindler Epidermolysis Bullosa
Cheilitis, Colitis, Periodontitis, Recurrent skin infections, Inflammation of the large intestine... ORPHA:2908
Ohdo Syndrome
Clinodactyly of the 5th finger, Microtia, Stenosis of the external auditory canal, Depressed nasa... OMIM:249620
Osteopathia Striata With Cranial Sclerosis
High palate, Hydrocephalus, Cleft palate, Overfolded helix, Omphalocele, Anal atresia, Clinodacty... OMIM:300373
Branchiootorenal Syndrome 1
High palate, Sensorineural hearing impairment, Conductive hearing impairment, Cleft palate, Micro... OMIM:113650
Craniodigital-Intellectual Disability Syndrome
Spina bifida occulta, Narrow nasal bridge, Short nose, Brachycephaly, Finger syndactyly ORPHA:1514
Isolated Exencephaly
Holoprosencephaly, Depressed nasal bridge, Hypoplasia of the frontal bone, Low-set ears, Abnormal... ORPHA:563612
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... OMIM:193300
Distal Tetrasomy 15Q
High palate, Sensorineural hearing impairment, Hydrocephalus, Abnormal helix morphology, Microtia... ORPHA:314588
Seckel Syndrome 7
Microtia, Prominent nose, Clinodactyly, Intrauterine growth retardation, Abnormal carpal morphology OMIM:614851
Acitretin/Etretinate Embryopathy
High palate, Median cleft palate, Hypoplastic nasal septum, Microtia, Aplasia/hypoplasia involvin... ORPHA:40366
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Holoprosencephaly, Pyriform aperture stenosis, Choanal atresia, ... OMIM:147250
Coxoauricular Syndrome
Abnormality of femur morphology, Microtia, Micromelia, Atresia of the external auditory canal, He... ORPHA:1508
Meier-Gorlin Syndrome 6
Conductive hearing impairment, Depressed nasal ridge, Cleft palate, Microtia, Depressed nasal bri... OMIM:616835
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Midface retrusion, Microtia OMIM:300946
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Microtia, Craniosynostosis, Hearing impairment, Wide nose, Anteverted nares, Low-set ears OMIM:619056
Familial Pancreatic Carcinoma
Neoplasm of the liver, Exocrine pancreatic insufficiency, Extrahepatic cholestasis, Breast carcin... ORPHA:1333
Meige Disease
Recurrent bacterial skin infections, Angiosarcoma, Pleural effusion, Recurrent skin infections ORPHA:90186
X-Linked Intellectual Disability, Van Esch Type
Coronal craniosynostosis, Clinodactyly of the 5th finger, Intrauterine growth retardation, Microtia ORPHA:163976
Autosomal Recessive Omodysplasia
Abnormality of femur morphology, Craniosynostosis, Hypoplastic distal humeri, Depressed nasal bri... ORPHA:93329
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Sensorineural hearing impairment, Cleft palate, Microtia, Stenosis of the external auditory canal... OMIM:606164
Terminal Osseous Dysplasia
Fibroma OMIM:300244
Raine Syndrome
High palate, Hydrocephalus, Abnormal pinna morphology, Cleft palate, Depressed nasal bridge, Brac... OMIM:259775
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Histiocytoma, Osteosarcoma, Osteomyelitis leading to amputation due to slow healing fractures, Fi... OMIM:112250
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
High palate, Conductive hearing impairment, Short toe, Clinodactyly of the 5th finger, Midface re... OMIM:617877
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus, Brachydactyly, Low-set, posteriorly rotated ears, Short nose, Macrotia, Anteverted... ORPHA:2701
Buratti-Harel Syndrome
High palate, Clinodactyly of the 5th finger, Velopharyngeal insufficiency, Microtia, Bifid uvula,... OMIM:619314
Rothmund-Thomson Syndrome Type 1
Melanoma, Squamous cell carcinoma, Myelodysplasia, Basal cell carcinoma, Osteosarcoma, Cryptorchi... ORPHA:221008
Phosphoribosylaminoimidazole Carboxylase Deficiency
Clinodactyly of the 5th finger, Talipes equinovarus, Depressed nasal bridge, Tracheoesophageal fi... OMIM:619859
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Squamous cell carcinoma, Recurrent skin infections ORPHA:89842
Pfeiffer Syndrome Type 3
High palate, Cleft palate, Depressed nasal bridge, Brachyturricephaly, Short nose, Midface retrus... ORPHA:93260
Maxillonasal Dysplasia
Short distal phalanx of finger, Depressed nasal ridge, Cleft palate, Depressed nasal bridge, Abno... ORPHA:1248
Cowden Syndrome 7
Papilloma, Breast carcinoma, Hemangioma, Trichilemmoma, Papillary thyroid carcinoma, Intestinal p... OMIM:616858
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Low-set ears, Finger syndactyly, Depressed nasal ridge, Encephalocele, Preaxial hand polydactyly,... ORPHA:2211
Holoprosencephaly 4
Depressed nasal bridge, Depressed nasal tip, Median cleft lip and palate, Absent nasal septal car... OMIM:142946
Tropical Pancreatitis
Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Pancreatic calcification, P... ORPHA:103918
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Ovarian neoplasm, Peripheral primitive neuroectodermal neoplasm, Uterin... ORPHA:370348
Ring Chromosome 7 Syndrome
Severe intrauterine growth retardation, Plagiocephaly, Clinodactyly of the 5th finger, Median cle... ORPHA:1449
Lowry-Maclean Syndrome
Hydrocephalus, Trigonocephaly, Convex nasal ridge, High, narrow palate, Inguinal hernia, Cleft pa... ORPHA:2409
Camptodactyly Syndrome, Guadalajara, Type I
High palate, Depressed nasal bridge, Short nose, Midface retrusion, Intrauterine growth retardati... OMIM:211910
Pfeiffer Syndrome
High palate, Hydrocephalus, Coronal craniosynostosis, Depressed nasal bridge, Brachyturricephaly,... OMIM:101600
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Short nose, Macrotia ORPHA:438178
Halperin-Birk Syndrome
High palate, Talipes equinovarus, Inguinal hernia, Death in childhood, Umbilical hernia, Semiloba... OMIM:618651
Rothmund-Thomson Syndrome Type 2
Melanoma, Lymphoma, Squamous cell carcinoma, Myelodysplasia, Basal cell carcinoma, Osteosarcoma, ... ORPHA:221016
Familial Multinodular Goiter
Sertoli cell neoplasm, Thyroid carcinoma, Ovarian neoplasm, Pleuropulmonary blastoma, Medulloepit... ORPHA:276399
Absent Eyebrows And Eyelashes With Mental Retardation
Short nose, Convex nasal ridge, Encephalocele OMIM:200130
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Overfolded helix, Dolichocephaly, Camptodactyly of finger, Macrotia, Brachydactyly, Short nose, P... ORPHA:2083
Holoprosencephaly-Postaxial Polydactyly Syndrome
Anal atresia, Hydrocephalus, Cleft palate, Holoprosencephaly, Intestinal malrotation, Low-set, po... ORPHA:2166
Retinoblastoma
Ewing sarcoma, Retinoblastoma, Glioma, Melanoma, Rhabdomyosarcoma, Lymphoma, Osteosarcoma, Uveiti... ORPHA:790
Intellectual Developmental Disorder, Autosomal Dominant 1
Bulbous nose, Protruding ear, Clinodactyly of the 5th finger, Depressed nasal ridge, Macroglossia... OMIM:156200
Chung-Jansen Syndrome
High palate, Tapered finger, Short nose, Clinodactyly, Macrotia, Anteverted nares OMIM:617991
Congenital Neuronal Ceroid Lipofuscinosis
Split hand, Low-set ears, Aplasia/Hypoplasia of the external ear, Wide nasal bridge ORPHA:168486
Nager Syndrome
Cleft palate, Microtia, Hypoplasia of the radius, Abnormal nasal morphology, Low-set, posteriorly... ORPHA:245
Hartsfield Syndrome
Ectrodactyly, Cleft palate, Craniosynostosis, Syndactyly, Wide nose, Hypoplasia of the frontal bo... OMIM:615465
Xeroderma Pigmentosum, Complementation Group B
Squamous cell carcinoma of the skin, Basal cell carcinoma, Neoplasm, Cutaneous melanoma OMIM:610651
Alkuraya-Kucinskas Syndrome
High palate, Overlapping toe, Hydrocephalus, Plagiocephaly, Talipes equinovarus, Hand clenching, ... OMIM:617822
Opitz-Kaveggia Syndrome
Hydrocephalus, Cleft palate, Prominent fingertip pads, Microtia, first degree, Pyloric stenosis, ... OMIM:305450
Pyoderma Gangrenosum
Pustule, Rheumatoid arthritis, Myeloid leukemia, Inflammation of the large intestine, Myositis, M... ORPHA:48104
Fanconi Anemia, Complementation Group L
Anal atresia, Hydrocephalus, Intrauterine growth retardation, Cleft palate, Microtia, Absent thum... OMIM:614083
Dyskeratosis Congenita, X-Linked
Blepharitis, Hodgkin lymphoma, Conjunctivitis, Cirrhosis, Squamous cell carcinoma, Myelodysplasia... OMIM:305000
Holoprosencephaly 9
Hydrocephalus, Cleft palate, Holoprosencephaly, Depressed nasal bridge, Short hard palate, Underd... OMIM:610829
Tumor Predisposition Syndrome 2
Adenomatous colonic polyposis, Juvenile type ovarian granulosa cell tumor, Colon cancer, Uveal me... OMIM:619975
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Otitis media, Hepatosplenomegaly, Hepatitis, Recurrent pneumonia, Pneum... ORPHA:169160
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Anal atresia, Clinodactyly of the 5th finger, Microtia, first degree, Cupped ear, Absent radius, ... OMIM:600123
Trichothiodystrophy
Recurrent bronchopulmonary infections, Cryptorchidism, Eczema, Congenital exfoliative erythroderm... ORPHA:33364
Bazex Syndrome
Eczema, Atopic dermatitis, Acne inversa, Basal cell carcinoma, Trichoepithelioma OMIM:301845
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Metaphyseal dysplasia, Craniosynostosis, Depressed nasal bridge, Short nose, Low-set ears, Intrau... OMIM:614732
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Microtia ORPHA:139450
Monosomy 22
Aplasia of the thymus, Hepatosplenomegaly, Meningioma, Seborrheic dermatitis, Schwannoma, Sarcoma... ORPHA:96123
Coffin-Siris Syndrome 9
High palate, Short distal phalanx of finger, Low hanging columella, Long nose, Depressed nasal br... OMIM:615866
Oculoauriculovertebral Spectrum With Radial Defects
Ectopic anus, Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the... ORPHA:2549
Aymé-Gripp Syndrome
Sensorineural hearing impairment, Hydrocephalus, Plagiocephaly, Clinodactyly of the 5th finger, C... ORPHA:1272
Skin Creases, Congenital Symmetric Circumferential, 2
Cleft palate, Microtia, Depressed nasal bridge, Tapered finger, Long fingers, Low-set ears, Poste... OMIM:616734
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus, Cleft palate, Craniosynostosis, Depressed nasal bridge, Metacarpophalangeal joint ... OMIM:245600
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
High palate, Bulbous nose, Plagiocephaly, Macroglossia, Depressed nasal bridge, Syndactyly, Campt... ORPHA:369891
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Anteverted nares, Depressed nasal bridge, Short nose, Low-set ears OMIM:613443
46,Xy Sex Reversal 4
High palate, Anal atresia, Sensorineural hearing impairment, Cleft palate, Depressed nasal ridge,... OMIM:154230
Oculocutaneous Albinism Type 1A
Squamous cell carcinoma of the skin, Basal cell carcinoma ORPHA:79431
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Conductive hearing impairment, Aplasia/Hypoplasia of the thumb, Microtia, Mesomelic arm shortenin... OMIM:171480
Mismatch Repair Cancer Syndrome 1
Adenomatous colonic polyposis, Plexiform neurofibroma, Medulloblastoma, Neuroblastoma, Pleomorphi... OMIM:276300
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, Squamous cell carcinoma, Osteosarcoma, Basal cell carcinoma, Cryptorchidism OMIM:268400
Faciodigitogenital Syndrome, Autosomal Recessive
High palate, Narrow palate, Clinodactyly of the 5th finger, Inguinal hernia, Microtia, Syndactyly... OMIM:227330
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Squamous cell carcinoma of the skin, Basal cell carcinoma, Melanoma, Skin rash ORPHA:220295
Johnson Neuroectodermal Syndrome
Conductive hearing impairment, Protruding ear, Cleft palate, Microtia, Atresia of the external au... OMIM:147770
Lymphedema-Distichiasis Syndrome
Abnormality of the pulmonary vasculature, Fibrosarcoma, Recurrent skin infections, Tubulointersti... ORPHA:33001
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Anal atresia, Abnormal pinna morphology, Cleft palate, Microtia, Postaxial polydactyly, Depressed... OMIM:617925
Mosaic Variegated Aneuploidy Syndrome
Duodenal atresia, Clinodactyly of the 5th finger, Cleft palate, Stomach cancer, Depressed nasal r... ORPHA:1052
Cousin Syndrome
Dislocated radial head, Hydrocephalus, Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 t... OMIM:260660
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Anteverted nares, Short nose, Depressed nasal ridge ORPHA:1355
Drug Reaction With Eosinophilia And Systemic Symptoms
Pustule, Skin rash, Acute hepatic failure, Interstitial pneumonitis, Myocarditis, Elevated hepati... ORPHA:139402
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Holoprosencephaly, Tracheoesophageal fistula, Hearing impairment, Esophageal atresia ORPHA:77298
Teebi Hypertelorism Syndrome 2
High palate, Clinodactyly of the 5th finger, Cleft palate, Broad nasal tip, Depressed nasal bridg... OMIM:619736
Tuberous Sclerosis 2
Optic nerve glioma, Subependymal nodules, Subungual fibromas, Cortical tubers, Renal angiomyolipo... OMIM:613254
Pachydermoperiostosis
Eczematoid dermatitis, Hepatomegaly, Osteomyelitis, Elevated circulating growth hormone concentra... ORPHA:2796
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
High palate, Talipes equinovarus, Macroglossia, Microtia, Depressed nasal bridge, Triangular nasa... OMIM:141750
3C Syndrome
Ectopic anus, Anal atresia, Hydrocephalus, High, narrow palate, Inguinal hernia, Cleft palate, In... ORPHA:7
Vacterl With Hydrocephalus
Anal atresia, Hydrocephalus, Intrauterine growth retardation, Aqueductal stenosis, Inguinal herni... ORPHA:3412
Non-Distal Trisomy 13Q
High palate, Abnormal antihelix morphology, Arachnodactyly, Postaxial hand polydactyly, Short nos... ORPHA:1702
Brachycephaly, Deafness, Cataract, Microstomia, And Mental Retardation
Cleft palate, Microtia, Depressed nasal bridge, Finger clinodactyly, Brachydactyly, Tapered finge... OMIM:601353
Parietal Foramina With Cleidocranial Dysplasia
Parietal foramina, Microtia OMIM:168550
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
High palate, 2-3 toe syndactyly, Tapered finger, Long fingers, Short nose, Macrotia, Brachycephal... OMIM:218000
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Holoprosencephaly, Hypoplasia of the radius, Aplasia of the nose, Abnormality of the humerus, Atr... ORPHA:3186
Saethre-Chotzen Syndrome
Cleft palate, Long nose, Prominent crus of helix, Radioulnar synostosis, Partial duplication of t... OMIM:101400
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Fibroma, Hepatosplenomegaly, Recurrent pneumonia OMIM:619750
Cerebrooculonasal Syndrome
High palate, Low-set ears, Hydrocephalus, Narrow palate, Conductive hearing impairment, Cleft pal... OMIM:605627
Gomez-Lopez-Hernandez Syndrome
High palate, Craniosynostosis, Midface retrusion, Short nose, Skull asymmetry, Anteverted nares, ... OMIM:601853
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Sensorineural hearing impairment, Short distal phalanx of finger, Hydrocephalus, Plagiocephaly, S... OMIM:239300
Acrofacial Dysostosis, Cincinnati Type
Flared lower limb metaphysis, Cleft palate, Microtia, Femoral bowing, Anotia, Choanal atresia, Ma... OMIM:616462
Trisomy 12P
Abnormal antihelix morphology, Anal atresia, Clinodactyly of the 5th finger, Cleft palate, Large ... ORPHA:1699
Congenital Disorder Of Deglycosylation 2
High palate, Ulnar deviation of the hand, Macroglossia, Microtia, Cleft earlobe, Bilateral talipe... OMIM:619775
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Sensorineural hearing impairment, Talipes equinovarus, Coxa valga, Macroglossia, Microtia, Depres... OMIM:301040
Kagami-Ogata Syndrome
Inguinal hernia, Microtia, Depressed nasal bridge, Long fingers, Limb undergrowth, Frontal bossin... OMIM:608149
Distal Xq28 Microduplication Syndrome
High palate, Microtia, Broad nasal tip, Recurrent upper respiratory tract infections, Absent anti... ORPHA:293939
Glutamine Deficiency, Congenital
Depressed nasal bridge, Micromelia, Neonatal death, Camptodactyly, Short nose, Anteverted nares, ... OMIM:610015
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Microtia, Depressed nasal bridge, Abnormal metatarsal morphology, Brachydactyly, Anteverted nares... ORPHA:163654
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Microtia, Recurrent otitis media, Anteverted nares, Posteriorly rotated ears, Wide nasal bridge OMIM:602562
Smith-Lemli-Opitz Syndrome
Cleft palate, Advanced eruption of teeth, Ulnar deviation of finger, Pyloric stenosis, Rhizomelia... ORPHA:818
Townes-Brocks Syndrome 1
Hydrocephalus, Tracheoesophageal fistula, Umbilical hernia, Anal atresia, Microtia, Rectoperineal... OMIM:107480
Grfoma
Neoplasm of the pancreas, Cholelithiasis, Pituitary adenoma, Elevated circulating growth hormone ... ORPHA:97261
Holoprosencephaly 13, X-Linked
Duodenal atresia, Alobar holoprosencephaly, Median cleft palate, Cleft palate, Microtia, Aplasia ... OMIM:301043
Orofaciodigital Syndrome Xiv
Abnormal pinna morphology, Trigonocephaly, Cleft palate, Holoprosencephaly, Postaxial polydactyly... OMIM:615948
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Cleft palate, Depressed nasal bridge, Short nose, Rhizomelia, Clu... OMIM:108720
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Uterine neoplasm, Multiple gastric polyps, Breast carcinoma, Ovarian cy... OMIM:175200
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short toe, Rhizo-meso-acromelic limb shortening, Microtia, Depressed nasal bridge, Brachydactyly,... OMIM:611717
Frontofacionasal Dysplasia
Depressed nasal ridge, Cleft palate, Dimple on nasal tip, Depressed nasal bridge, Bifid nasal tip... ORPHA:1791
Auriculocondylar Syndrome
Abnormal pinna morphology, Abnormality of the crus of the helix, Cleft palate, Glossoptosis, Exte... ORPHA:137888
Acrodysostosis
Short toe, Short metatarsal, Abnormal morphology of ulna, Depressed nasal ridge, Hypoplasia of th... ORPHA:950
Chromosome 14Q11-Q22 Deletion Syndrome
High palate, Abnormal pinna morphology, Plagiocephaly, Depressed nasal bridge, Short nose, Wide n... OMIM:613457
Craniofacial-Deafness-Hand Syndrome
Sensorineural hearing impairment, Ulnar deviation of the hand, Short nose, Ulnar deviation of the... OMIM:122880
Congenital Erythropoietic Porphyria
Recurrent bacterial skin infections, Splenomegaly, Seborrhoeic blepharitis, Keratoconjunctivitis,... ORPHA:79277
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Large fleshy ears, Decreased fibular diameter, Cleft palate, Short femur, Adducted thumb, Flared ... OMIM:616897
Achondrogenesis
Inguinal hernia, Micromelia, Frontal bossing, Short nose, Umbilical hernia, Anteverted nares ORPHA:932
Meier-Gorlin Syndrome 7
High palate, Anal atresia, Bowing of the legs, 2-3 toe syndactyly, Cleft palate, Microtia, Cranio... OMIM:617063
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
High palate, Hydrocephalus, Plagiocephaly, Coxa valga, Depressed nasal bridge, Hammertoe, Short n... OMIM:619833
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Short nose, Macrotia, Low-set ears, Brachycephaly OMIM:615419
Pallister-Hall Syndrome
Depressed nasal ridge, Cleft palate, Short nose, Umbilical hernia, Scaphocephaly, Polydactyly aff... ORPHA:672
Odontochondrodysplasia
Depressed nasal bridge, Micromelia, Delayed eruption of teeth, Frontal bossing, Short nose, Death... ORPHA:166272
Otopalatodigital Syndrome, Type I
Cleft palate, Short 3rd metacarpal, Broad hallux, Short nose, Sandal gap, Omphalocele, Broad dist... OMIM:311300
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Bulbous nose, Plagiocephaly, Clinodactyly of the 5th finger, Depressed nasal bridge, Midface retr... OMIM:618430
Hypomandibular Faciocranial Dysostosis
Trigonocephaly, Aplasia/Hypoplasia of the tongue, Cleft palate, Craniosynostosis, Bifid uvula, Sh... ORPHA:1790
Pterygium Colli, Isolated
Short nose, Protruding ear OMIM:177990
Tetrasomy 5P
High palate, Overlapping toe, Hydrocephalus, Clinodactyly of the 5th finger, Talipes equinovarus,... ORPHA:3309
Charge Syndrome
Cleft palate, Overfolded helix, Depressed nasal bridge, Tracheoesophageal fistula, Delayed erupti... ORPHA:138
Meier-Gorlin Syndrome 2
Abnormal pinna morphology, Microtia, Dolichocephaly, Camptodactyly, Patellar aplasia, Intrauterin... OMIM:613800
Desmosterolosis
Large earlobe, Hydrocephalus, Cleft palate, Intestinal malrotation, Depressed nasal bridge, Micro... ORPHA:35107
Antley-Bixler Syndrome
Cleft palate, Craniosynostosis, Arachnodactyly, Femoral bowing, Camptodactyly of finger, Low-set,... ORPHA:83
Pde4D Haploinsufficiency Syndrome
Broad phalanx, Depressed nasal bridge, Upper limb undergrowth, Broad hallux, Short nose, Intraute... ORPHA:439822
Phocomelia, Schinzel Type
Aplasia of the ulna, Anal atresia, Protruding ear, Calvarial skull defect, Ectrodactyly, High, na... ORPHA:2879
Monosomy 9P
High palate, Abnormal antihelix morphology, Calvarial skull defect, Cleft palate, Microtia, Depre... ORPHA:261112
Al-Raqad Syndrome
Sandal gap, Low-set ears, Short nose, Brachydactyly OMIM:616459
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Cleft palate, Overfolded helix, Small hand, Contracture of the proximal interphalangeal joint of ... OMIM:301044
Craniofacial-Deafness-Hand Syndrome
Sensorineural hearing impairment, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, D... ORPHA:1529
Acromicric Dysplasia
Abnormality of femur morphology, Bulbous nose, Fifth metacarpal with ulnar notch, Small hand, Bra... ORPHA:969
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Neonatal death, Esophageal stenosis, Microtia OMIM:619817
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma OMIM:227090
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Bulbous nose, Cupped ear, Tapered finger, Short nose, Posteriorly rotated ears, Prominent nasal b... OMIM:613870
Fetal Hydantoin Syndrome
Short distal phalanx of finger, Abnormal pinna morphology, Cleft palate, Depressed nasal ridge, L... ORPHA:1912
Dermotrichic Syndrome
Depressed nasal bridge, Frontal bossing, Short nose, Macrotia, Aganglionic megacolon ORPHA:99688
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydrocephalus, 2-3 toe syndactyly, Toe clinodactyly, Cleft palate, Microtia, Long toe, Hyperexten... ORPHA:163979
Classic Hodgkin Lymphoma
Neoplasm, Hepatomegaly, Skin rash, Splenomegaly, Lymphoma, Pruritus ORPHA:391
Van Maldergem Syndrome 1
High palate, Anal atresia, Sensorineural hearing impairment, Conductive hearing impairment, Talip... OMIM:601390
Dyskeratosis Congenita, Autosomal Dominant 1
Cirrhosis, Interstitial pneumonitis, Myelodysplasia, Squamous cell carcinoma of the skin, Pulmona... OMIM:127550
Otopalatodigital Syndrome Type 2
Hydrocephalus, Abnormal pinna morphology, Cleft palate, Depressed nasal bridge, Short nose, Ompha... ORPHA:90652
Alopecia-Intellectual Disability Syndrome 4
Erythroderma, Bilateral cryptorchidism OMIM:618840
Dyskeratosis Congenita, Digenic
Squamous cell carcinoma of the skin, Basal cell carcinoma, Melanoma, Decreased testicular size OMIM:620040
16P11.2P12.2 Microdeletion Syndrome
Bulbous nose, Abnormal pinna morphology, Long nose, Camptodactyly of finger, Proximal placement o... ORPHA:261211
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Adrenocortical adenoma, Neuroendocrine neoplasm, ... ORPHA:276152
Nabais Sa-De Vries Syndrome, Type 1
Bulbous nose, Clinodactyly of the 5th finger, Depressed nasal bridge, Short nose, Hearing impairm... OMIM:618828
Familial Hemophagocytic Lymphohistiocytosis
Decreased liver function, Cholestatic liver disease, Hepatomegaly, Colitis, Skin rash, Splenomega... ORPHA:540
Burn-Mckeown Syndrome
Short nose, Prominent nasal bridge, Wide nasal bridge, Bilateral choanal atresia ORPHA:1200
Meier-Gorlin Syndrome 5
Microtia, Hypoplasia of the capital femoral epiphysis, Irregular femoral epiphysis, Small earlobe... OMIM:613805
Axial Mesodermal Dysplasia Spectrum
Anal atresia, Hydrocephalus, Microtia, Tracheoesophageal fistula, Omphalocele, Abnormal intestine... ORPHA:1834
Immunodeficiency 85 And Autoimmunity
Oligoarthritis, Eczema, Erythroderma, Pulmonary fibrosis, Recurrent respiratory infections OMIM:619510
Proximal 16P11.2 Microduplication Syndrome
Arachnodactyly, Frontal bossing, Microtia ORPHA:370079
Ppoma
Neoplasm of the pancreas, Cholelithiasis, Pituitary adenoma, Elevated circulating growth hormone ... ORPHA:97278
Distal Monosomy 10Q
High palate, Cleft palate, Craniosynostosis, Prominent fingertip pads, Tapered finger, Morphologi... ORPHA:96148
Robinow Syndrome, Autosomal Dominant 2
Cleft palate, Depressed nasal bridge, Partial duplication of the phalanx of hand, Short nose, Umb... OMIM:616331
Ichthyosis, Congenital, Autosomal Recessive 7
Erythroderma OMIM:615022
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Microtia, Tracheoesophageal fistula, Anotia, Bifid nose, Atresia of the external a... ORPHA:268249
Van Maldergem Syndrome 2
High palate, Sensorineural hearing impairment, Conductive hearing impairment, Talipes equinovarus... OMIM:615546