Upington Disease |
|
Arthralgia of the hip, Broad femoral neck, Multiple enchondromatosis, Flattened femoral head |
OMIM:191520 |
Orbital Margin, Hypoplasia Of |
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Lower eyelid coloboma, Congenital extraocular muscle anomaly, Lacrimal duct atresia |
OMIM:165600 |
Osteopoikilosis And Dacryocystitis |
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Dacryocystitis |
OMIM:166705 |
Metachondromatosis |
|
Multiple enchondromatosis, Abnormal epiphysis morphology, Abnormal metaphysis morphology |
ORPHA:2499 |
Genochondromatosis Type 1 |
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Abnormality of the knee, Multiple enchondromatosis |
ORPHA:85197 |
Aplasia Of Lacrimal And Salivary Glands |
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Lacrimal gland aplasia, Absent lacrimal punctum, Lacrimal gland hypoplasia |
OMIM:180920 |
Enchondromatosis, Multiple, Ollier Type |
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Multiple enchondromatosis, Abnormal long bone morphology |
OMIM:166000 |
Lipoma Of The Conjunctiva |
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Conjunctival lipoma |
OMIM:151700 |
Legg-Calvé-Perthes Disease |
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Joint dislocation, Cartilage destruction |
ORPHA:2380 |
Pterygium Of Conjunctiva And Cornea |
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Pterygium, Abnormal conjunctiva morphology |
OMIM:178000 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome |
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Epicanthus, Ptosis, Blepharophimosis, Abnormal lacrimal duct morphology, Synophrys |
ORPHA:126 |
Isolated Congenital Alacrima |
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Lacrimal gland hypoplasia, Lacrimal punctal atresia, Distichiasis, Ptosis, Conjunctivitis |
ORPHA:91416 |
Lacrimal Duct Defect |
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Dacryocystocele, Conjunctivitis, Dacryocystitis, Lacrimal duct atresia |
OMIM:149700 |
Multiple Epiphyseal Dysplasia Type 5 |
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Multiple small vertebral fractures, Arthralgia of the hip, Abnormality of the epiphyses of the fe... |
ORPHA:93311 |
Sillence Syndrome |
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Chess-pawn distal phalanges, Abnormal vertebral morphology, Platyspondyly, Broad thumb, Short fin... |
ORPHA:3168 |
Alacrima, Congenital, Autosomal Dominant |
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Lacrimal punctal atresia, Lacrimal gland hypoplasia |
OMIM:103420 |
Igg4-Related Ophthalmic Disease |
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Abnormal morphology of bony orbit of skull, Enlarged lacrimal glands, Sialadenitis, Abnormality o... |
ORPHA:449563 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
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Highly arched eyebrow, Elevated circulating luteinizing hormone level, Supernumerary lacrimal pun... |
ORPHA:572333 |
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome |
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Lacrimal duct atresia |
ORPHA:139450 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Enlarged lacrimal glands, Abnormality of the submandibular glands, Enlargement of parotid gland, ... |
ORPHA:79078 |
Dacryocystitis-Osteopoikilosis Syndrome |
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Dacryocystitis |
ORPHA:1562 |
Hypertrichosis Cubiti |
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Downslanted palpebral fissures, Thick eyebrow, Abnormal nasolacrimal system morphology, Ptosis, A... |
ORPHA:2220 |
Familial Calcium Pyrophosphate Deposition |
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Chondrocalcinosis, Joint dislocation, Calcification of cartilage, Joint swelling, Arthritis, Oste... |
ORPHA:1416 |
Hypertelorism, Preauricular Sinus, Punctal Pits, And Deafness |
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Nasolacrimal duct obstruction |
OMIM:614187 |
Igg4-Related Submandibular Gland Disease |
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Abnormal salivary gland morphology, Abnormal pancreas morphology, Abnormality of the submandibula... |
ORPHA:449432 |
Short Stature, Brussels Type |
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Delayed epiphyseal ossification, Calcification of cartilage |
ORPHA:2867 |
Spondyloepiphyseal Dysplasia Tarda |
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Enlarged metaphyses, Finger swelling, Premature osteoarthritis, Dysplasia of the femoral head, Li... |
ORPHA:93284 |
Larsen-Like Syndrome, Lethal Type |
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Abnormal cartilage matrix, Multiple joint dislocation, Joint dislocation |
OMIM:245650 |
Ollier Disease |
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Platyspondyly, Multiple enchondromatosis, Abnormal metaphysis morphology, Abnormal cartilage morp... |
ORPHA:296 |
Nasopalpebral Lipoma-Coloboma Syndrome |
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Sparse eyebrow, Ectopic lacrimal punctum, Telecanthus, Lower eyelid coloboma, Absent lacrimal pun... |
OMIM:167730 |
White Sponge Nevus 1 |
|
Abnormal conjunctiva morphology |
OMIM:193900 |
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
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Absent lacrimal punctum, Hypoplastic lacrimal duct, Upslanted palpebral fissure, Cryptorchidism |
OMIM:273390 |
Waardenburg Syndrome, Type 4C |
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White eyelashes, White eyebrow, Cryptorchidism, Lacrimal gland hypoplasia |
OMIM:613266 |
Atelosteogenesis, Type Ii |
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Platyspondyly, Abnormal pelvic girdle bone morphology, Cervical kyphosis, Dumbbell-shaped femur, ... |
OMIM:256050 |
Nasolacrimal Duct Cyst |
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Chronic irritative conjunctivitis, Dacryocystocele, Narrow palpebral fissure, Nasolacrimal duct o... |
ORPHA:141083 |
Lethal Kniest-Like Dysplasia |
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Platyspondyly, Hypoplastic ilia, Flared metaphysis, Abnormal cartilage morphology, Broad long bon... |
ORPHA:2347 |
Kniest Dysplasia |
|
Delayed epiphyseal ossification, Platyspondyly, Dumbbell-shaped femur, Flared metaphysis, Hypopla... |
OMIM:156550 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Lacrimal duct stenosis |
OMIM:609057 |
Sarcoidosis |
|
Enlarged lacrimal glands, Parotitis, Enlargement of parotid gland, Keratoconjunctivitis sicca, Da... |
ORPHA:797 |
Sarcoidosis, Susceptibility To, 1 |
|
Enlarged lacrimal glands, Abnormal salivary gland morphology |
OMIM:181000 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Nasolacrimal duct obstruction |
ORPHA:440727 |
Lacrimoauriculodentodigital Syndrome 2 |
|
Conjunctivitis, Lacrimal duct aplasia, Absent lacrimal punctum, Lacrimal duct atresia |
OMIM:620192 |
Lacrimoauriculodentodigital Syndrome |
|
Lacrimal duct aplasia, Hypoplasia of the lacrimal punctum, Cryptorchidism, Absent lacrimal punctu... |
ORPHA:2363 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Highly arched eyebrow, Telecanthus, Thick eyebrow, Absent lacrimal punctum, Absent eyelashes, Ptosis |
ORPHA:228396 |
Split hand/foot malformation 1 (SHFM1) |
|
Lacrimal duct aplasia |
DECIPHER:46 |
Branchiootic Syndrome 3 |
|
Lacrimal duct stenosis |
OMIM:608389 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Lacrimal gland hypoplasia, Downslanted palpebral fissures, Hypoplasia of the lacrimal punctum, Te... |
OMIM:149730 |
Craniofacial-Deafness-Hand Syndrome |
|
Lacrimal duct atresia, Blepharophimosis, Downslanted palpebral fissures |
ORPHA:1529 |
Kniest Dysplasia |
|
Delayed epiphyseal ossification, Enlarged metaphyses, Platyspondyly, Dumbbell-shaped femur, Verte... |
ORPHA:485 |
Alkaptonuria |
|
Intervertebral disk degeneration, Arthropathy, Arthritis, Limitation of knee mobility, Vertebral ... |
OMIM:203500 |
Oculotrichoanal Syndrome |
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Cryptophthalmos, Upper eyelid coloboma, Nasolacrimal duct obstruction |
ORPHA:2717 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Sparse eyebrow, Downslanted palpebral fissures, Cryptorchidism, Ptosis, Lacrimal duct stenosis |
ORPHA:73246 |
Multiple Osteochondromas |
|
Abnormal tibia morphology, Genu valgum, Bowing of the long bones, Abnormal fibula morphology, Abn... |
ORPHA:321 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Hypoplastic nipples, Nasolacrimal duct obstruction |
OMIM:273400 |
Manitoba Oculotrichoanal Syndrome |
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Cryptophthalmos, Corneopalpebral synechiae, Eyelid coloboma, Nasolacrimal duct obstruction |
OMIM:248450 |
Lacrimoauriculodentodigital Syndrome 3 |
|
Absent eyelashes, Epicanthus, Lacrimal duct aplasia, Absent lacrimal punctum |
OMIM:620193 |
Kid Syndrome |
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Sparse eyebrow, Posterior blepharitis, Aplastic/hypoplastic lacrimal glands, Sparse eyelashes, Ke... |
ORPHA:477 |
Rubinstein-Taybi Syndrome |
|
Highly arched eyebrow, Downslanted palpebral fissures, Telecanthus, Cryptorchidism, Epicanthus, P... |
ORPHA:783 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hamartoma of the orbital region, Sparse eyebrow, Lacrimal punctal atresia, Telecanthus, Conjuncti... |
ORPHA:2399 |
Loeys-Dietz Syndrome 6 |
|
Hip osteoarthritis, Osteochondritis dissecans, Intervertebral disk degeneration, Arachnodactyly, ... |
OMIM:619656 |
Moderate Hemophilia A |
|
Joint swelling, Hip contracture, Arthropathy, Synovitis, Cartilage destruction, Joint hemorrhage |
ORPHA:169805 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Conjunctivitis, Periorbital dermoid cyst, Lacrimal duct stenosis |
OMIM:615560 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Nasolacrimal duct obstruction |
ORPHA:3218 |
Poikiloderma With Neutropenia |
|
Sparse eyebrow, Sparse lateral eyebrow, Nasolacrimal duct obstruction, Conjunctivitis, Blepharitis |
OMIM:604173 |
Limb-Mammary Syndrome |
|
Hypoplastic nipples, Lacrimal duct atresia |
OMIM:603543 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short distal phalanx of finger, Abnormal cartilage matrix, Epiphyseal stippling, Short metacarpal |
ORPHA:86822 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Dacryocystitis, Cryptorchidism, Pseudohypoparathyroidism |
ORPHA:464288 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Highly arched eyebrow, Hooded eyelid, Long eyelashes, Thick eyebrow, Cryptorchidism, Ptosis, Naso... |
OMIM:610759 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Epicanthus, Ptosis, Lacrimal duct stenosis, Cryptorchidism |
ORPHA:457193 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pterygium, Nasolacrimal duct obstruction, Sparse eyelashes |
OMIM:224230 |
Beck-Fahrner Syndrome |
|
Lacrimal duct stenosis, Ptosis |
OMIM:618798 |
Roifman-Chitayat Syndrome |
|
Lacrimal duct stenosis |
OMIM:613328 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Abnormal nasolacrimal system morphology, Abnormal eyebrow morphology, Abnormal eyelid morphology,... |
ORPHA:3220 |
Branchio-Oculo-Facial Syndrome |
|
Ptosis, Upslanted palpebral fissure, Nasolacrimal duct obstruction |
ORPHA:1297 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Broad long bones, Broad phalanx, Short metacarpal, Calcification of cartilage, Knee flexion contr... |
OMIM:271665 |
Noonan Syndrome 14 |
|
Sparse eyebrow, Downslanted palpebral fissures, Cryptorchidism, Epicanthus, Lacrimal duct stenosis |
OMIM:619745 |
Adult Syndrome |
|
Absent nipple, Breast hypoplasia, Hypoplastic nipples, Nasolacrimal duct obstruction, Conjunctivitis |
OMIM:103285 |
Treacher Collins Syndrome 1 |
|
Downslanted palpebral fissures, Lower eyelid coloboma, Cryptorchidism, Abnormal parotid gland mor... |
OMIM:154500 |
Aneurysm-Osteoarthritis Syndrome |
|
Camptodactyly of finger, Osteochondritis dissecans, Intervertebral disk degeneration, Arachnodact... |
ORPHA:284984 |
Fontaine Progeroid Syndrome |
|
Short palpebral fissure, Absent nipple, Aplastic/hypoplastic lacrimal glands, Downslanted palpebr... |
OMIM:612289 |
Ramos-Arroyo Syndrome |
|
Dacryocystitis, Upslanted palpebral fissure, Narrow palpebral fissure, Nasolacrimal duct obstruction |
ORPHA:1051 |
Proboscis Lateralis |
|
Abnormal morphology of bony orbit of skull, Nasolacrimal duct obstruction, Unilateral narrow palp... |
ORPHA:141099 |
Jacobsen Syndrome |
|
Annular pancreas, Telecanthus, Cryptorchidism, Eyelid coloboma, Epicanthus, Ptosis, Nasolacrimal ... |
OMIM:147791 |
Adult Syndrome |
|
Breast hypoplasia, Hypoplastic nipples, Absent nipple, Nasolacrimal duct obstruction |
ORPHA:978 |
Branchiootorenal Syndrome 1 |
|
Lacrimal duct stenosis, Lacrimal duct aplasia, Euthyroid goiter |
OMIM:113650 |
Isolated Osteopoikilosis |
|
Dacryocystitis |
ORPHA:166119 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Highly arched eyebrow, Sparse lateral eyebrow, Downslanted palpebral fissures, Cryptorchidism, Up... |
OMIM:617506 |
Limb-Mammary Syndrome |
|
Sparse eyebrow, Absent nipple, Lacrimal duct atresia, Breast aplasia, Absent lacrimal punctum, Ap... |
ORPHA:69085 |
Atypical Werner Syndrome |
|
Chondrocalcinosis, Finger clinodactyly, Intervertebral disk degeneration, Osteolytic defects of t... |
ORPHA:79474 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ankyloblepharon, Supernumerary nipple, Lacrimal duct atresia, Sparse eyelashes, Absent eyelashes,... |
OMIM:106260 |
Aspergillosis |
|
Dacryocystitis |
ORPHA:1163 |
Branchiootic Syndrome |
|
Abnormal nasolacrimal system morphology |
ORPHA:52429 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Nasolacrimal duct obstruction, Synophrys, Downslanted palpebral fissures |
OMIM:300966 |
Loeys-Dietz Syndrome 3 |
|
Hip osteoarthritis, Osteochondritis dissecans, Intervertebral disk degeneration, Arachnodactyly, ... |
OMIM:613795 |
Rapp-Hodgkin Syndrome |
|
Sparse eyebrow, Decreased number of sweat glands, Supernumerary nipple, Absent lacrimal punctum, ... |
OMIM:129400 |
Chromosome 16P13.3 Duplication Syndrome |
|
Cryptorchidism, Upslanted palpebral fissure, Epicanthus, Ptosis, Narrow palpebral fissure, Nasola... |
OMIM:613458 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Dermatochalasis, Lacrimal duct stenosis, Palpebral edema |
ORPHA:221139 |
Atelis Syndrome 2 |
|
Dacryocystocele, Epicanthus, Short palpebral fissure |
OMIM:620185 |
Tolchin-Le Caignec Syndrome |
|
Short palpebral fissure, Thick eyebrow, Hooded eyelid, Nasolacrimal duct obstruction |
OMIM:618971 |
Neu-Laxova Syndrome |
|
Abnormal nasolacrimal system morphology, Abnormal eyelash morphology, Abnormal eyelid morphology,... |
ORPHA:2671 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Decreased testicular size, Dacryocystitis, Cryptorchidism, Downslanted palpebral fissures |
ORPHA:251028 |
Bor Syndrome |
|
Abnormal lacrimal duct morphology |
ORPHA:107 |
Adult-Onset Still Disease |
|
Arthritis, Joint swelling, Cartilage destruction, Arthralgia/arthritis |
ORPHA:829 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Sparse eyebrow, Decreased response to growth hormone stimulation test, Cryptorchidism, Sparse eye... |
OMIM:604292 |
Neuroocular Syndrome 1 |
|
Hooded upper eyelid, Highly arched eyebrow, Downslanted palpebral fissures, Long eyelashes, Thick... |
OMIM:619539 |
Arboleda-Tham Syndrome |
|
Highly arched eyebrow, Bilateral cryptorchidism, Sparse medial eyebrow, Thin eyebrow, Upper eyeli... |
OMIM:616268 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Highly arched eyebrow, Lacrimal duct aplasia, Supernumerary nipple, Cryptorchidism, Upslanted pal... |
OMIM:618454 |
Digeorge Syndrome |
|
Scoliosis, Intervertebral disk degeneration, Patellar dislocation |
OMIM:188400 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Sparse eyebrow, Ankyloblepharon, Supernumerary nipple, Absent lacrimal punctum, Sparse eyelashes |
ORPHA:1071 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Upslanted palpebral fissure, Abnormal nasolacrimal system morphology, Epicanthus, Ptosis, Abnorma... |
ORPHA:2526 |
Johanson-Blizzard Syndrome |
|
Absent lacrimal punctum |
ORPHA:2315 |
Rubinstein-Taybi Syndrome 1 |
|
Highly arched eyebrow, Downslanted palpebral fissures, Bilateral cryptorchidism, Long eyelashes, ... |
OMIM:180849 |
Carpenter Syndrome 2 |
|
Highly arched eyebrow, Sparse eyebrow, Supernumerary nipple, Bilateral cryptorchidism, Cryptorchi... |
OMIM:614976 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Highly arched eyebrow, Elevated circulating luteinizing hormone level, Sparse eyebrow, Hypoplasia... |
OMIM:618419 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Thyroid C cell hyperplasia, Lacrimal duct atresia |
OMIM:300952 |
Gabriele-De Vries Syndrome |
|
Sparse eyebrow, Downslanted palpebral fissures, Decreased response to growth hormone stimulation ... |
ORPHA:506358 |
Encephalocraniocutaneous Lipomatosis |
|
Abnormal nasolacrimal system morphology, Abnormal eyelash morphology, Abnormal eyelid morphology |
ORPHA:2396 |
Catel-Manzke Syndrome |
|
Thin eyebrow, Upslanted palpebral fissure, Cryptorchidism, Nasolacrimal duct obstruction |
OMIM:616145 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse eyebrow, Decreased response to growth hormone stimulation test, Telecanthus, Cryptorchidis... |
OMIM:129900 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Lacrimal duct stenosis, Cryptorchidism, Anterior pituitary hypoplasia |
OMIM:151050 |
Malt Lymphoma |
|
Abnormal nasolacrimal system morphology |
ORPHA:52417 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Short palpebral fissure, Cryptorchidism, Abnormal nasolacrimal system morphology, Thyroid dysgene... |
ORPHA:3047 |
Alkaptonuria |
|
Joint dislocation, Calcification of cartilage, Joint swelling, Arthritis, Cartilage destruction, ... |
ORPHA:56 |
Reactive Arthritis |
|
Arthritis, Joint swelling, Cartilage destruction |
ORPHA:29207 |
Oculoauricular Syndrome |
|
Nasolacrimal duct obstruction |
OMIM:612109 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Sparse eyebrow, Absent nipple, Lacrimal duct aplasia, Downslanted palpebral fissures, Epicanthus,... |
OMIM:620186 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Thin eyebrow, Cryptorchidism, Abnormal nasolacrimal system morphology, Absent eyebrow, Abnormal e... |
ORPHA:2273 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal nasolacrimal system morphology, Abnormal eyelash morphology, Abnormal eyelid morphology,... |
ORPHA:2556 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Highly arched eyebrow, Trichiasis, Downslanted palpebral fissures, Cryptorchidism, Ptosis, Nasola... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Highly arched eyebrow, Trichiasis, Downslanted palpebral fissures, Cryptorchidism, Ptosis, Nasola... |
ORPHA:353277 |
Fraser Syndrome 1 |
|
Lacrimal duct aplasia, Cryptophthalmos, Cryptorchidism, Absent eyelashes, Upper eyelid coloboma, ... |
OMIM:219000 |
Bosma Arhinia Microphthalmia Syndrome |
|
Synophrys, Cryptorchidism, Lacrimal duct atresia |
OMIM:603457 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal nasolacrimal system morphology, Cryptorchidism |
ORPHA:2658 |
Hardikar Syndrome |
|
Lacrimal duct stenosis, Bile duct proliferation |
OMIM:301068 |
Holoprosencephaly 9 |
|
Anterior pituitary agenesis, Decreased response to growth hormone stimulation test, Panhypopituit... |
OMIM:610829 |
Branchiooculofacial Syndrome |
|
Supernumerary nipple, Telecanthus, Upslanted palpebral fissure, Cryptorchidism, Ptosis, Nasolacri... |
OMIM:113620 |
Nocardiosis |
|
Conjunctivitis, Dacryocystitis |
ORPHA:31204 |
Igg4-Related Kidney Disease |
|
Dacryocystitis, Abnormality of the anterior pituitary, Sialadenitis |
ORPHA:449395 |
Saethre-Chotzen Syndrome |
|
Abnormal nasolacrimal system morphology, Ptosis, Shallow orbits |
OMIM:101400 |
Fraser Syndrome |
|
Cryptophthalmos, Malformed lacrimal duct, Lacrimal duct aplasia, Cryptorchidism |
ORPHA:2052 |
Vascular Ehlers-Danlos Syndrome |
|
Telecanthus, Hypoplastic lacrimal duct, Cryptorchidism, Epicanthus, Ptosis, Aplasia/Hypoplasia of... |
ORPHA:286 |
Johanson-Blizzard Syndrome |
|
Conjunctival icterus, Upslanted palpebral fissure, Cryptorchidism, Absent lacrimal punctum, Hypop... |
OMIM:243800 |
Leukocyte Adhesion Deficiency |
|
Conjunctivitis, Nasolacrimal sac granuloma |
ORPHA:2968 |
Neurodevelopmental Disorder With Infantile Epileptic Spasms |
|
Epicanthus |
OMIM:619373 |