Possible Causes for pterygium colli Turner Syndrome The aim of surgery for pterygium colli (PC) is to correct the contour deformity, redistribute or remove the horizontal excess of skin, address the abnormal posterior hairline [ncbi.nlm.nih.gov] Surgical therapy for the removal of disturbing stigmata (e.g., pterygium colli) and psychosocial care for the patients is important. [lecturio.com] Webbed neck Other names Pterygium colli deformity A 12-year-old female with Noonan syndrome exhibiting a typical webbed neck. [en.wikipedia.org] Noonan Syndrome colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. [orpha.net] Background: Noonan syndrome is often described as a “Male Turner syndrome” presenting with pterygium colli, short stature, pectus excavatum, webbed neck, down-slanting palpebral [mhaus.org] colli. [jisppd.com] Pfeiffer-Palm-Teller Syndrome […] antecubital syndrome of Pterygium colli backwardness anomalies of the fingers Pterygium of the conjunctive one Pterygium multiples, lethal form, syndrome of Pterygium multiples [wikipedia.qwika.com] Pteromerhanophobia Pterygia mental retardation facial dysmorphism Pterygium colli mental retardation digital anomalies Pterygium of the conjunctiva Pterygium syndrome antecubital [bioreference.net] Pterigium Colli[?] Pteromerhanophobia[?] Pterygia mental retardation facial dysmorphism[?] Pterygium colli mental retardation digital anomalies[?] [encyclopedia.kids.net.au] Prata-Libéral-Gonçalves Syndrome […] antecubital syndrome of Pterygium colli backwardness anomalies of the fingers Pterygium of the conjunctive one Pterygium multiples, lethal form, syndrome of Pterygium multiples [wikipedia.qwika.com] colli mental retardation digital anomalies Pterygium of the conjunctiva Pterygium syndrome X linked Pterygium syndrome antecubital Pterygium syndrome multiple dominant type [mindmappedia.com] Pteromerhanophobia Pterygia mental retardation facial dysmorphism Pterygium colli mental retardation digital anomalies Pterygium of the conjunctiva Pterygium syndrome antecubital [bioreference.net] Autosomal-Recessive Non-Lethal Multiple Pterygium Syndrome Acronym EVMPS Synonyms Escobar syndrome Multiple pterygium syndrome Multiple pterygium syndrome, non-lethal type Nonlethal type multiple pterygium syndrome Pterygium colli [uniprot.org] […] syndrome; Multiple pterygium syndrome; Pterygium colli syndrome; Pterygium universale; Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple [rarediseases.info.nih.gov] Pterygium Syndrome, Multiple Synonyms of Pterygium Syndrome, Multiple Escobar Syndrome multiple pterygium syndrome pterygium colli syndrome pterygium universale General Discussion [rarediseases.org] Patterson Pseudoleprechaunism Syndrome colli Pterygium colli mental retardation digital anomalies Pterygium of the conjunctiva Pterygium syndrome antecubital Pterygium syndrome multiple dominant type Pterygium [ipfs.io] […] antecubital syndrome of Pterygium colli backwardness anomalies of the fingers Pterygium of the conjunctive one Pterygium multiples, lethal form, syndrome of Pterygium multiples [wikipedia.qwika.com] Pteromerhanophobia Pterygia mental retardation facial dysmorphism Pterygium colli mental retardation digital anomalies Pterygium of the conjunctiva Pterygium syndrome antecubital [bioreference.net] Fetal Hydantoin Syndrome colli); and microcephaly. [rarediseases.org] […] apart from each other than usual (hypertelorism); crossed eyes (strabismus); eyelids that droop (ptosis); a large, wide mouth; malformed ears; mild webbing of the neck (pterygium [rarediseases.org] Hypogonadism colli], a highly arched palate, short fourth metacarpals, widely spaced nipples, or multiple pigmented nevi) See Clinical Presentation for more detail. [emedicine.medscape.com] […] estrogenization: As evidenced by breast development and maturation of the vaginal mucosa Examination for signs of Turner syndrome (eg, short stature, webbing of the neck [such as pterygium [emedicine.medscape.com] Familial Hypercholanemia / small fingernails / anonychia of hands - Anomalies of spine, vertebrae and pelvis - Bifid scrotum - Coarse / thick hair - Epicanthic folds - Excess nuchal skin without pterygium [csbg.cnb.csic.es] colli - Fingerlike / triphalangeal thumb - Herniae - Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability - Intrauterine growth retardation [csbg.cnb.csic.es] Pseudoaminopterin Syndrome Colli Syndrome Pterygium Colli-Mental Retardation-Digital Anomalies Syndrome Pterygium Syndrome Pterygium Universale Pterygo-Arthromyodysplasia Congenita Ptosis-Downslanting [neo-genetics.com] Pterygia mental retardation facial dysmorphism Pterygium colli mental retardation digital anomalies Pterygium of the conjunctiva Pterygium syndrome antecubital Pterygium [wikidoc.org] colli Pterygium colli mental retardation digital anomalies Pterygium of the conjunctiva Pterygium syndrome antecubital Pterygium syndrome multiple dominant type Pterygium [sosu.us] Baraitser-Winter Syndrome Patient 61458 exhibited the typical features of BRWS (trigonocephaly, hypertelorism, high arched eyebrows, congenital ptosis, pterygium colli, limited extension of the large [ncbi.nlm.nih.gov] In mild cases, the facial appearance in infancy (when metopic ridge is absent), chest deformity and nuchal skinfolds or pterygium colli are confounding (cf. B11 or B16). [ncbi.nlm.nih.gov] colli 1 5 0.17 20 11 0.65 Kyphosis/scoliosis 2 3 0.40 13 17 0.43 Pectus 1 3 0.25 14 12 0.54 Heart defect 1 4 0.20 11 20 0.35 Limbs Limited extension of knees/elbows NA NA [ncbi.nlm.nih.gov] Lymphedema Distichiasis Syndrome A new syndrome combining pterygium colli with developmental anomalies of the eyelids and lymphatics of the lower extremities Trans. Am. Ophthalmol. [link.springer.com] FALLS HF et. al. (1964) A NEW SYNDROME COMBINING PTERYGIUM COLLI WITH DEVELOPMENTAL ANOMALIES OF THE EYELIDS AND LYMPHATICS OF THE LOWER EXTREMITIES. [ ] 10. [moldiag.com] colli, bifid uvula and widening of the spinal canal with extradural SAC associated with neurological disorders [ 5, 7 - 10 ]. [omicsonline.org] Watson Syndrome colli. [accessanesthesiology.mhmedical.com] Noonan Syndrome : A rare genetic disorder characterized by distinctive craniofacial features, including ocular hypertelorism, severe ptosis, prominent low-set ears and pterygium [accessanesthesiology.mhmedical.com] Cerebro-Facio-Thoracic Dysplasia Pterygium colli-mental retardation-digital anomalies Pterygium colli, ptosis, upslanting palpebral fissures, hypertelorism, broad nasal base and bridge, epicanthus inversus [en.wikibooks.org] Congenital Malformation of the Spine Multiple Cervical Vertebral Anomalies [fusions], Pterygium colli [webbed neck] with low hairline. Very limited range of motion. Hemivertebrae are common. [quizlet.com] X-linked Distal Spinal Muscular Atrophy Type 3 colli - Long / large ear - Micropenis / small penis / agenesis - Mouth held open - Ptosis - Seizures / epilepsy / absences / spasms / status epilepticus - Strabismus / squint [csbg.cnb.csic.es] Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Abnormally placed nipples - Dermoid sinus / dimple / pit (excluding sacral) - Excess nuchal skin without pterygium [csbg.cnb.csic.es] Lymphangioma They are known to be associated with Turner's syndrome, Noonan's syndrome, Trisomies, Cardiac anomalies, Fetal hydrops, Fetal alcohol syndrome, and Familial pterygium colli [ghorayeb.com] Pterygium Of note, pterygium colli or webbed neck refers to the presence of bilateral skin folds extending from the mastoid to the acromion. [symptoma.com] It may be encountered in patients suffering from Turner syndrome or multiple pterygium syndrome. [symptoma.com] Acroosteolysis-Keloid-Like Lesions-Premature Aging Syndrome colli) 2. [lymphedemapeople.com] colli mental retardation digital anomalies Nestor-guillermo progeria syndrome Copper deficiency, familial benign Familial juvenile hyperuricaemic nephropathy Smith-Lemli-Opitz [checkrare.com] Partial ectropion (eversion of part of an eyelid) of the lateral third of the eyelashes. 2- Lymphologic manifestations pterygium colli (Webbing of the neck) Primary lymphedema [lymphedemapeople.com] Postaxial Oligodactyly, Tetramelic Antecubital OMIM:600159 Pterygium Colli and Mental Retardation with Facial and Digital Anomalies OMIM:177990 Pterygium Colli, Isolated OMIM:178000 Pterygium of Conjunctiva [informatics.jax.org] colli-intellectual disability-digital anomalies syndrome Ptosis-syndactyly-learning difficulties syndrome Pycnodysostosis Pyknoachondrogenesis Pyle disease Pyruvate dehydrogenase [se-atlas.de] OMIM:614501 Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism; OMIM:177980 Pterygia, Mental Retardation, and Distinctive Craniofacial Features OMIM:178200 Pterygium [informatics.jax.org] Chudley-Rozdilsky Syndrome […] with malformations White matter hypoplasia corpus Frontonasal dysplasia Pterygium colli mental retardation callosum agenesia mental Penta-X syndrome phocomelic up per limbs [yumpu.com] Diseases Lysinuric protein intolerance Brachymorphism onychodysplasia dysphalangism syndrome Barth syndrome Pterygium colli mental retardation digital anomalies Palmer Pagon [lumiererestaurant.com] colli mental retardation digital anomalies Qazi Markouizos syndrome Radioulnar synostosis retinal pigment abnormalities Ramon Syndrome Ramos Arroyo Clark syndrome Reardon [ctdbase.org] Posterior Fusion of Lumbosacral Vertebrae-Blepharoptosis Syndrome This pterygium syndrome also has some overlap with the autosomal dominant Noonan syndrome (OMIM 163950), in which pterygium colli, deformed sternum, cryptorchidism, and myocardiopathy [rrnursingschool.biz] colli Q18.4 Macrostomia Q18.5 Microstomia Q18.6 Macrocheilia Hypertrophy of lip, congenital Q18.7 Microcheilia Q18.8 Other specified congenital malformations of face and [embryology.med.unsw.edu.au] Nuchal skinfold redundancy and pterygium colli are related to prenatal posterior cervical hygroma and can therefore be diagnosed prenatally (Witt et al. 1987). [rrnursingschool.biz] Muscular Dystrophy-Dystroglycanopathy Type C7 colli-intellectual disability-digital anomalies syndrome Ptosis-syndactyly-learning difficulties syndrome Pycnodysostosis Pyknoachondrogenesis Pyle disease Pyruvate dehydrogenase [se-atlas.de] colli mental retardation digital anomalies Nestor-guillermo progeria syndrome Copper deficiency, familial benign Familial juvenile hyperuricaemic nephropathy Smith-Lemli-Opitz [checkrare.com] […] type 1A Pseudohypoparathyroidism type 1C Pseudoprogeria syndrome Pseudopseudohypoparathyroidism Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency Pterygium [se-atlas.de] Chylothorax The mechanisms involved behind chylothorax in Noonan syndrome may be multifactorial such as congenital heart disease, coagulation-factor deficiency, pterygium colli, and lymphangiomatosis [doi.org] Congenital Non-Neoplastic Nevus colli) Q18.3 Macrostomia Q18.4 Microstomia Q18.5 Hypertrophy of lip, congenital or macrocheilia or large wide lips Q18.6 Short or long columella Q18.8 Angular lip pits Q18.8 [cdc.gov] Fistula of auricle, congenital and fistula cervicoaural Q18.1 Pretragal (commonly referred to as preauricular) sinus and cyst Q18.1 Redundant neck folds Q18.3 Webbed neck (pterygium [cdc.gov] Pallidopyramidal Syndrome Pterygia mental retardation and distinctive craniofacial features Pterygium antecubital Pterygium colli mental retardation digital anomalies Pterygium of the conjunctiva [personalizedcause.com] […] hypospadias Pseudoxanthoma elasticum Pseudoxanthoma elasticum dominant form Pseudoxanthoma elasticum forme fruste Pseudoxanthoma elasticum recessive form Psittacosis Pterigium Colli [personalizedcause.com] Cervical Radiculitis colli mental retardation digital anomalies Qazi Markouizos syndrome Radioulnar synostosis retinal pigment abnormalities Ramon Syndrome Ramos Arroyo Clark syndrome Reardon [ctdbase.org] Mental Retardation Proud Syndrome Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness Pseudoaminopterin syndrome Pseudouridinuria and Mental Defect Pterygium [ctdbase.org] Benign Adult Familial Myoclonic Epilepsy colli syndrome; pterygium universale Familiäre Dysautonomie ( 1 Files ) Erkrankung: Familiäre Dysautonomie ICD 10: G90.1 Synonyme : Riley-Day-Syndrom, Hereditary Sensory [orphananesthesia.eu] […] syndrome, Escobar variant ICD 10 : Q79.8 Synonyme : Escobar syndrome; pterygium syndrome; multiple pterygium syndrome, non-lethal type; familial pterygium syndrome; pterygium [orphananesthesia.eu] […] lipoid granulomatosis; non-Langerhans cell histiocytosis; Erdheim-Chester syndrome; polyostotic sclerosing histiocytosis Escobar Syndrom ( 1 Files ) Erkrankung : Multiple pterygium [orphananesthesia.eu] Klippel-Feil Syndrome Sprengel anomaly or congenital high scapula – [20-30%] Associated anomalies Musculoskeletal System Scoliosis Sprengel’s deformity Torticollis Pterygium colli Cervical ribs [boneandspine.com] Nielsen’s syndrome is a combination of Klippel-Feil syndrome and Bonnevie-Ullrich syndrome (pterygium colli). [whonamedit.com] Increases the apparent width of the neck Referred to as pterygium colli Torticollis and facial asymmetry Due to contracture of the sternocleidomastoid muscle or bony abnormalities [boneandspine.com] Distal Spinal Muscular Atrophy Type 3 colli syndrome; pterygium universale Familiäre Dysautonomie ( 1 Files ) Erkrankung: Familiäre Dysautonomie ICD 10: G90.1 Synonyme : Riley-Day-Syndrom, Hereditary Sensory [orphananesthesia.eu] […] syndrome, Escobar variant ICD 10 : Q79.8 Synonyme : Escobar syndrome; pterygium syndrome; multiple pterygium syndrome, non-lethal type; familial pterygium syndrome; pterygium [orphananesthesia.eu] […] lipoid granulomatosis; non-Langerhans cell histiocytosis; Erdheim-Chester syndrome; polyostotic sclerosing histiocytosis Escobar Syndrom ( 1 Files ) Erkrankung : Multiple pterygium [orphananesthesia.eu]
