Upington Disease |
|
Multiple enchondromatosis, Flattened femoral head, Broad femoral neck, Arthralgia of the hip |
OMIM:191520 |
Metachondromatosis |
|
Multiple enchondromatosis, Abnormal metaphysis morphology, Abnormal epiphysis morphology |
ORPHA:2499 |
Orbital Margin, Hypoplasia Of |
|
Lacrimal duct atresia, Lower eyelid coloboma, Congenital extraocular muscle anomaly |
OMIM:165600 |
Osteopoikilosis And Dacryocystitis |
|
Dacryocystitis |
OMIM:166705 |
Genochondromatosis Type 1 |
|
Abnormality of the knee, Multiple enchondromatosis |
ORPHA:85197 |
Aplasia Of Lacrimal And Salivary Glands |
|
Lacrimal gland hypoplasia, Absent lacrimal punctum, Lacrimal gland aplasia |
OMIM:180920 |
Metachondromatosis |
|
Multiple enchondromatosis, Bowing of the long bones, Abnormal joint morphology |
OMIM:156250 |
Enchondromatosis, Multiple, Ollier Type |
|
Abnormal long bone morphology, Multiple enchondromatosis |
OMIM:166000 |
Lipoma Of The Conjunctiva |
|
Conjunctival lipoma |
OMIM:151700 |
Legg-Calvé-Perthes Disease |
|
Cartilage destruction, Joint dislocation |
ORPHA:2380 |
Pterygium Of Conjunctiva And Cornea |
|
Abnormal conjunctiva morphology, Pterygium |
OMIM:178000 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome |
|
Epicanthus, Synophrys, Abnormal lacrimal duct morphology, Blepharophimosis, Ptosis |
ORPHA:126 |
Lacrimal Duct Defect |
|
Dacryocystocele, Dacryocystitis, Conjunctivitis, Lacrimal duct atresia |
OMIM:149700 |
Isolated Congenital Alacrima |
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Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, Distichiasis, Ptosis |
ORPHA:91416 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnormal upper li... |
ORPHA:93311 |
Sillence Syndrome |
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Brachydactyly, Abnormal distal phalanx morphology of finger, Large tarsal bones, Metatarsus adduc... |
ORPHA:3168 |
Alacrima, Congenital, Autosomal Dominant |
|
Lacrimal gland hypoplasia, Lacrimal punctal atresia |
OMIM:103420 |
Igg4-Related Ophthalmic Disease |
|
Palpebral edema, Abnormal morphology of bony orbit of skull, Abnormal eyelid morphology, Orchitis... |
ORPHA:449563 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Lacrimal gland aplasia, Telecanthus, Streak ovary, Ectropion, Duplicated lacrimal punctum, Elevat... |
ORPHA:572333 |
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome |
|
Lacrimal duct atresia |
ORPHA:139450 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Palpebral edema, Enlarged lacrimal glands, Abnormality of the orbital region, Enlargement of paro... |
ORPHA:79078 |
Dacryocystitis-Osteopoikilosis Syndrome |
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Dacryocystitis |
ORPHA:1562 |
Hypertrichosis Cubiti |
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Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash morphology,... |
ORPHA:2220 |
Familial Calcium Pyrophosphate Deposition |
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Joint dislocation, Osteoarthritis, Arthritis, Joint swelling, Calcification of cartilage, Chondro... |
ORPHA:1416 |
Hypertelorism, Preauricular Sinus, Punctal Pits, And Deafness |
|
Nasolacrimal duct obstruction |
OMIM:614187 |
Igg4-Related Submandibular Gland Disease |
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Enlarged lacrimal glands, Abnormal pancreas morphology, Enlargement of parotid gland, Abnormal sa... |
ORPHA:449432 |
Ring Dermoid Of Cornea |
|
Abnormal conjunctiva morphology, Conjunctival dermolipoma |
OMIM:180550 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Bitot spots of the conjunctiva |
OMIM:277350 |
Short Stature, Brussels Type |
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Delayed epiphyseal ossification, Calcification of cartilage |
ORPHA:2867 |
Ollier Disease |
|
Multiple enchondromatosis, Abnormal metaphysis morphology, Abnormal cartilage morphology, Platysp... |
ORPHA:296 |
Larsen-Like Syndrome, Lethal Type |
|
Joint dislocation, Multiple joint dislocation, Abnormal cartilage matrix |
OMIM:245650 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Upper eyelid coloboma, ... |
OMIM:167730 |
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Upslanted palpebral fissure, Absent lacrimal punctum, Hypoplastic lacrimal duct, Cryptorchidism |
OMIM:273390 |
Waardenburg Syndrome, Type 4C |
|
Lacrimal gland hypoplasia, Cryptorchidism, White eyelashes, White eyebrow |
OMIM:613266 |
Atelosteogenesis, Type Ii |
|
Lumbar hyperlordosis, Sandal gap, Cervical kyphosis, Bifid humerus, Lacunar halos around chondroc... |
OMIM:256050 |
Nasolacrimal Duct Cyst |
|
Chronic irritative conjunctivitis, Abnormal lacrimal sac morphology, Dacryocystitis, Ectropion of... |
ORPHA:141083 |
Spondyloepiphyseal Dysplasia Tarda |
|
Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e... |
ORPHA:93284 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Hypoplastic ilia, Wide anterior fontanel, Abnormal... |
ORPHA:2347 |
Kniest Dysplasia |
|
Hip contracture, Enlarged joints, Dumbbell-shaped long bone, Delayed epiphyseal ossification, Fla... |
OMIM:156550 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Lacrimal duct stenosis |
OMIM:609057 |
Sarcoidosis |
|
Dacryocystitis, Enlarged lacrimal glands, Enlargement of parotid gland, Abnormal conjunctiva morp... |
ORPHA:797 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Nasolacrimal duct obstruction |
ORPHA:440727 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormal salivary gland morphology, Enlarged lacrimal glands |
OMIM:181000 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Kyphosis, Arthritis, Limitation of knee mobility, Intervertebral d... |
OMIM:203500 |
Loeys-Dietz Syndrome 6 |
|
Arachnodactyly, Knee osteoarthritis, Scoliosis, Hip osteoarthritis, Intervertebral disc degeneration |
OMIM:619656 |
Lacrimoauriculodentodigital Syndrome |
|
Lacrimal gland aplasia, Absent lacrimal punctum, Cryptorchidism, Hypoplasia of the lacrimal punct... |
ORPHA:2363 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Absent lacrimal punctum, Telecanthus, Highly arched eyebrow, Absent eyelashes, Thick eyebrow, Ptosis |
ORPHA:228396 |
Lacrimoauriculodentodigital Syndrome 2 |
|
Absent lacrimal punctum, Conjunctivitis, Lacrimal duct atresia, Lacrimal duct aplasia |
OMIM:620192 |
Split hand/foot malformation 1 (SHFM1) |
|
Lacrimal duct aplasia |
DECIPHER:46 |
Branchiootic Syndrome 3 |
|
Lacrimal duct stenosis |
OMIM:608389 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absent lacrimal punctum, Telecanthus, Hypoplastic lacrimal duct, Absence of Stensen duct, Hypopla... |
OMIM:149730 |
Craniofacial-Deafness-Hand Syndrome |
|
Blepharophimosis, Downslanted palpebral fissures, Lacrimal duct atresia |
ORPHA:1529 |
Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
Oculotrichoanal Syndrome |
|
Cryptophthalmos, Upper eyelid coloboma, Nasolacrimal duct obstruction |
ORPHA:2717 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Lacrimal duct stenosis, Sparse eyebrow, Cryptorchidism, Downslanted palpebral fissures, Ptosis |
ORPHA:73246 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal tibia morphology, Metaphyseal widening, Abnormal carpal morphology, Abn... |
ORPHA:321 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Hypoplastic nipples, Nasolacrimal duct obstruction |
OMIM:273400 |
Lacrimoauriculodentodigital Syndrome 3 |
|
Absent eyelashes, Absent lacrimal punctum, Epicanthus, Lacrimal duct aplasia |
OMIM:620193 |
Kid Syndrome |
|
Sparse eyelashes, Sparse eyebrow, Posterior blepharitis, Keratoconjunctivitis sicca, Conjunctivit... |
ORPHA:477 |
Rubinstein-Taybi Syndrome |
|
Epicanthus, Telecanthus, Highly arched eyebrow, Cryptorchidism, Nasolacrimal duct obstruction, Do... |
ORPHA:783 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Abnormal eyelash morphology, Sparse eyebrow, Hamartoma of the or... |
ORPHA:2399 |
Atopic Keratoconjunctivitis |
|
Abnormal eyelid morphology, Loss of eyelashes, Keratoconjunctivitis sicca, Chemosis, Blepharitis |
ORPHA:163934 |
Manitoba Oculotrichoanal Syndrome |
|
Eyelid coloboma, Nasolacrimal duct obstruction, Cryptophthalmos |
OMIM:248450 |
Moderate Hemophilia A |
|
Arthropathy, Hip contracture, Cartilage destruction, Synovitis, Joint swelling, Joint hemorrhage |
ORPHA:169805 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Nasolacrimal duct obstruction |
ORPHA:3218 |
Limb-Mammary Syndrome |
|
Lacrimal duct atresia, Hypoplastic nipples |
OMIM:603543 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Periorbital dermoid cyst, Conjunctivitis, Lacrimal duct stenosis |
OMIM:615560 |
Poikiloderma With Neutropenia |
|
Sparse eyebrow, Nasolacrimal duct obstruction, Conjunctivitis, Blepharitis, Sparse lateral eyebrow |
OMIM:604173 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Epiphyseal stippling, Short metacarpal, Abnormal cartilage matrix, Short distal phalanx of finger |
ORPHA:86822 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Supernumerary nipple, Absent eyelashes, Lacrimal duct atresia, Ankyloblepharon,... |
OMIM:106260 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Dacryocystitis, Cryptorchidism, Pseudohypoparathyroidism |
ORPHA:464288 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Laterally extended eyebrow, Hooded eyelid, Highly arched eyebrow, Cryptorchidism, Synophrys, Naso... |
OMIM:610759 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Cryptorchidism, Epicanthus, Lacrimal duct stenosis, Ptosis |
ORPHA:457193 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pterygium, Sparse eyelashes, Nasolacrimal duct obstruction |
OMIM:224230 |
Beck-Fahrner Syndrome |
|
Lacrimal duct stenosis, Ptosis |
OMIM:618798 |
Roifman-Chitayat Syndrome |
|
Lacrimal duct stenosis |
OMIM:613328 |
Branchio-Oculo-Facial Syndrome |
|
Upslanted palpebral fissure, Nasolacrimal duct obstruction, Ptosis |
ORPHA:1297 |
Aneurysm-Osteoarthritis Syndrome |
|
Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptodactyly of finger, Protrusi... |
ORPHA:284984 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Abnormal eyebrow morphology, Abnormal nasolacrimal system morphology, Thin eyebrow, Abnormal eyel... |
ORPHA:3220 |
Noonan Syndrome 14 |
|
Epicanthus, Lacrimal duct stenosis, Sparse eyebrow, Cryptorchidism, Downslanted palpebral fissures |
OMIM:619745 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Bowing of the legs, Triangular shaped distal phalanges of the hand, Abnormal calcification of the... |
OMIM:271665 |
Adult Syndrome |
|
Absent nipple, Nasolacrimal duct obstruction, Conjunctivitis, Hypoplastic nipples, Breast hypoplasia |
OMIM:103285 |
Treacher Collins Syndrome 1 |
|
Sparse lower eyelashes, Lacrimal duct stenosis, Cryptorchidism, Upper eyelid coloboma, Lower eyel... |
OMIM:154500 |
Fontaine Progeroid Syndrome |
|
Aplastic/hypoplastic lacrimal glands, Absent nipple, Cryptorchidism, Synophrys, Hypoplastic nippl... |
OMIM:612289 |
Ramos-Arroyo Syndrome |
|
Upslanted palpebral fissure, Dacryocystitis, Narrow palpebral fissure, Nasolacrimal duct obstruction |
ORPHA:1051 |
Proboscis Lateralis |
|
Abnormal eyebrow morphology, Epicanthus, Abnormal nasolacrimal system morphology, Abnormal locati... |
ORPHA:141099 |
Jacobsen Syndrome |
|
Epicanthus, Telecanthus, Abnormal eyelash morphology, Cryptorchidism, Nasolacrimal duct obstructi... |
OMIM:147791 |
Adult Syndrome |
|
Hypoplastic nipples, Absent nipple, Nasolacrimal duct obstruction, Breast hypoplasia |
ORPHA:978 |
Adult-Onset Still Disease |
|
Cartilage destruction, Joint swelling, Arthritis |
ORPHA:829 |
Branchiootorenal Syndrome 1 |
|
Lacrimal duct aplasia, Euthyroid goiter, Lacrimal duct stenosis |
OMIM:113650 |
Isolated Osteopoikilosis |
|
Dacryocystitis |
ORPHA:166119 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Ptosis, Epicanthus, Lacrimal duct stenosis, Highly arched eyebrow, Cryptorchidism, Upslanted palp... |
OMIM:617506 |
Atypical Werner Syndrome |
|
Rocker bottom foot, Osteolytic defects of the phalanges of the hand, Finger clinodactyly, Hip dys... |
ORPHA:79474 |
Limb-Mammary Syndrome |
|
Absent lacrimal punctum, Absent nipple, Chronic irritative conjunctivitis, Sparse eyebrow, Lacrim... |
ORPHA:69085 |
Branchiootic Syndrome |
|
Abnormal nasolacrimal system morphology |
ORPHA:52429 |
Alkaptonuria |
|
Joint dislocation, Cartilage destruction, Osteoarthritis, Arthritis, Joint swelling, Calcificatio... |
ORPHA:56 |
Aspergillosis |
|
Dacryocystitis |
ORPHA:1163 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Synophrys, Downslanted palpebral fissures, Nasolacrimal duct obstruction |
OMIM:300966 |
Loeys-Dietz Syndrome 3 |
|
Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Osteoarthritis, Knee osteoarthritis, Scoli... |
OMIM:613795 |
Rapp-Hodgkin Syndrome |
|
Absent lacrimal punctum, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Decreased number... |
OMIM:129400 |
Chromosome 16P13.3 Duplication Syndrome |
|
Epicanthus, Cryptorchidism, Synophrys, Nasolacrimal duct obstruction, Upslanted palpebral fissure... |
OMIM:613458 |
Atelis Syndrome 2 |
|
Epicanthus, Dacryocystocele, Short palpebral fissure |
OMIM:620185 |
Tolchin-Le Caignec Syndrome |
|
Thick eyebrow, Hooded eyelid, Nasolacrimal duct obstruction, Short palpebral fissure |
OMIM:618971 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Dermatochalasis, Lacrimal duct stenosis, Palpebral edema |
ORPHA:221139 |
Neu-Laxova Syndrome |
|
Abnormal eyelash morphology, Pterygium, Abnormal nasolacrimal system morphology, Abnormal eyelid ... |
ORPHA:2671 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Dacryocystitis, Cryptorchidism, Downslanted palpebral fissures, Decreased testicular size |
ORPHA:251028 |
Bor Syndrome |
|
Abnormal lacrimal duct morphology |
ORPHA:107 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Sparse eyelashes,... |
OMIM:604292 |
Neuroocular Syndrome |
|
Highly arched eyebrow, Lagophthalmos, Synophrys, Nasolacrimal duct obstruction, Long eyelashes, L... |
OMIM:619539 |
Arboleda-Tham Syndrome |
|
Epicanthus, Lacrimal duct stenosis, Highly arched eyebrow, Bilateral cryptorchidism, Upper eyelid... |
OMIM:616268 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Epicanthus, Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Upslanted palpebral fiss... |
OMIM:618454 |
Digeorge Syndrome |
|
Patellar dislocation, Scoliosis, Intervertebral disc degeneration |
OMIM:188400 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Epicanthus, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash... |
ORPHA:2526 |
Johanson-Blizzard Syndrome |
|
Absent lacrimal punctum |
ORPHA:2315 |
Rubinstein-Taybi Syndrome 1 |
|
Broad eyebrow, Epicanthus, Highly arched eyebrow, Bilateral cryptorchidism, Cryptorchidism, Nasol... |
OMIM:180849 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Absent lacrimal punctum, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Ankyloblepharon |
ORPHA:1071 |
Carpenter Syndrome 2 |
|
Epicanthus, Highly arched eyebrow, Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism... |
OMIM:614976 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Epicanthus, Elevated circulating luteinizing hormone level, Highly arched eyebrow, Sparse eyebrow... |
OMIM:618419 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Lacrimal duct atresia, Thyroid C cell hyperplasia |
OMIM:300952 |
Gabriele-De Vries Syndrome |
|
Telecanthus, Lacrimal duct stenosis, Decreased response to growth hormone stimulation test, Spars... |
ORPHA:506358 |
Catel-Manzke Syndrome |
|
Upslanted palpebral fissure, Cryptorchidism, Nasolacrimal duct obstruction, Thin eyebrow |
OMIM:616145 |
Encephalocraniocutaneous Lipomatosis |
|
Abnormal eyelash morphology, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology |
ORPHA:2396 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Telecanthus, Absence of Stensen duct, Decreased response to growth hormone stimulation test, Spar... |
OMIM:129900 |
Malt Lymphoma |
|
Abnormal nasolacrimal system morphology |
ORPHA:52417 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Cryptorchidism, Lacrimal duct stenosis, Anterior pituitary hypoplasia |
OMIM:151050 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Abnormal nasolacrimal system morphology, Cryptorchidism, Ectopic thyroid, Ble... |
ORPHA:3047 |
Reactive Arthritis |
|
Cartilage destruction, Arthritis, Joint swelling |
ORPHA:29207 |
Oculoauricular Syndrome |
|
Nasolacrimal duct obstruction |
OMIM:612109 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Epicanthus, Absent nipple, Aplasia of the thymus, Sparse eyebrow, Hydrocele testis, Lacrimal duct... |
OMIM:620186 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eye... |
ORPHA:2273 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Highly arched eyebrow, Trichiasis, Cryptorchidism, Nasolacrimal duct obstruction, Hydrocele testi... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Highly arched eyebrow, Trichiasis, Cryptorchidism, Nasolacrimal duct obstruction, Hydrocele testi... |
ORPHA:353277 |
Fraser Syndrome 1 |
|
Absent eyebrow, Absent eyelashes, Cryptorchidism, Upper eyelid coloboma, Lacrimal duct aplasia, M... |
OMIM:219000 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal eyelash morphology, Abnormal testis morphology, Abnormal nasolacrimal system morphology,... |
ORPHA:2556 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Cryptorchidism, Abnormal nasolacrimal system morphology |
ORPHA:2658 |
Bosma Arhinia Microphthalmia Syndrome |
|
Cryptorchidism, Synophrys, Lacrimal duct atresia |
OMIM:603457 |
Hardikar Syndrome |
|
Bile duct proliferation, Lacrimal duct stenosis |
OMIM:301068 |
Branchiooculofacial Syndrome |
|
Telecanthus, Supernumerary nipple, Cryptorchidism, Nasolacrimal duct obstruction, Upslanted palpe... |
OMIM:113620 |
Nocardiosis |
|
Dacryocystitis, Conjunctivitis |
ORPHA:31204 |
Saethre-Chotzen Syndrome |
|
Ptosis, Abnormal nasolacrimal system morphology, Shallow orbits |
OMIM:101400 |
Igg4-Related Kidney Disease |
|
Dacryocystitis, Sialadenitis, Abnormality of the anterior pituitary |
ORPHA:449395 |
Fraser Syndrome |
|
Cryptorchidism, Malformed lacrimal duct, Lacrimal duct aplasia, Cryptophthalmos |
ORPHA:2052 |
Vascular Ehlers-Danlos Syndrome |
|
Telecanthus, Hypoplastic lacrimal duct, Epicanthus, Abnormal eyelash morphology, Cryptorchidism, ... |
ORPHA:286 |
Johanson-Blizzard Syndrome |
|
Absent lacrimal punctum, Cryptorchidism, Conjunctival icterus, Upslanted palpebral fissure, Hypop... |
OMIM:243800 |
Leukocyte Adhesion Deficiency |
|
Conjunctivitis, Nasolacrimal sac granuloma |
ORPHA:2968 |
Neurodevelopmental Disorder With Infantile Epileptic Spasms |
|
Epicanthus |
OMIM:619373 |