Pterygium Colli: Causes & Reasons

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Possible Causes for Pterygium Colli

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]

Symptoms are variable and range from facial dysmorphia (broad forehead, hypertelorism, low ears and outward-sloping eyelid axis), proportionate short stature, pterygium colli [medical-genetics.de]

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]

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]

Pterygia mental retardation and distinctive craniofacial features Pterygium antecubital Pterygium colli mental retardation digital anomalies Pterygium of the conjunctiva [personalizedcause.com]

Pterigium Colli[?] Pteromerhanophobia[?] Pterygia mental retardation facial dysmorphism[?] Pterygium colli mental retardation digital anomalies[?] [encyclopedia.kids.net.au]

Prata-Libéral-Gonçalves Syndrome

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]

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]

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]

Pterygium Syndrome, Multiple Synonyms of Pterygium Syndrome, Multiple Escobar Syndrome multiple pterygium syndrome pterygium colli syndrome pterygium universale General Discussion [rarediseases.org]

[…] syndrome; Multiple pterygium syndrome; Pterygium colli syndrome; Pterygium universale; Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple [rarediseases.info.nih.gov]

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]

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]

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]

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]

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]

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]

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]

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]

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]

Bagatelle-Cassidy Syndrome

colli mental retardation digital anomalies Ptosis strabismus ectopic pupils Pulmonary alveolar microlithiasis Pulmonary arterio-veinous fistula Pulmonary atresia with intact [rarediseases.info.nih.gov]

Pseudoneonatal adrenoleukodystrophy Pseudoprogeria syndrome Pseudopseudohypoparathyroidism Pseudotrisomy 13 syndrome Pseudoxanthoma elasticum Pseudoxanthoma elasticum, forme fruste Pterygium [rarediseases.info.nih.gov]

Tristichiasis

The hygroma had regressed by the time of birth leaving nuchal skin fold redundancy and pterygium colli. [lymphedemapeople.com]

D. : Familiaere Kardiomyopathie mit Pterygium colli. Muench. Med. Wschr. 109: 2638-2645, 1967. PubMed ID : 5632008 18. Digilio, M. [lymphedemapeople.com]

************ Alternative titles; symbols NOONAN SYNDROME MALE TURNER SYNDROME FEMALE PSEUDO-TURNER SYNDROME TURNER PHENOTYPE WITH NORMAL KARYOTYPE PTERYGIUM COLLI SYNDROME [lymphedemapeople.com]

Pinsky - Di George - Harley Syndrome

colli Pterygium colli mental retardation digital anomalies Pterygium of the conjunctiva Pterygium syndrome antecubital Pterygium syndrome multiple dominant type Pterygium [ipfs.io]

colli mental retardation digital anomalies Pterygium of the conjunctiva Pterygium syndrome X linked Pterygium syndrome antecubital Pterygium syndrome multiple dominant type [mindmappedia.com]

Fibular Dimelia-Diplopodia Syndrome

colli Short neck Webbed neck/pterygium colli Anomalies of chest/thorax/trunk Abnormally placed nipples Absent pectoral muscles Anomalies of the ribs Rib number anomalies [readbag.com]

Structural anomalies of middle ear/ossicles/tympanic cavity Anomalies of the neck Branchial fistulae of the neck Congenital torticolli Cystic hygroma Excess nuchal skin without pterygium [readbag.com]

Antecubital Pterygium

It is also called as Pterygium Colli syndrome, Escobar syndrome or Pterygium syndrome. Escobar (multyple pterygium) syndrome is a rare syndrome. [eajm.org]

Name Multiple Pterygium Syndrome, Escobar Variant Synonyms ESCOBAR SYNDROME, MULTIPLE PTERYGIUM SYNDROME, MULTIPLE PTERYGIUM SYNDROME, NONLETHAL TYPE, PTERYGIUM COLLI SYNDROME [mousephenotype.org]

Pterygium syndrome (multiple pterygium syndrome: pterygium colli syndrome). [proquest.com]

Aase Syndrome

colli). [rarediseases.org]

colli syndrome LEOPARD (multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth [uniklinik-freiburg.de]

[…] epicanthal folds); mild webbing of the fingers and/or toes (syndactyly); abnormal skin ridge patterns on the hands and feet (dermatoglyphics); and/or a short, webbed neck (pterygium [rarediseases.org]

Hamamy Syndrome

colli Skeletal Skull: craniosynostosis (in some patients) Head And Neck Eyes: laterally sparse eyebrows severe hypertelorism myopia, progressive severe Cardiovascular Heart [malacards.org]

The dysmorphias are represented by triangular face, down‐slanted palpebral fissure, hypertelorism, low‐set ears and pterygium colli. [intechopen.com]

[…] long fingers short index finger syndactyly (in some patients) tapering fingers (in some patients) clinodactyly of fifth finger more Head And Neck Neck: sloping shoulders pterygium [malacards.org]

Pseudotyphus of California

Tetraploidy syndrome Frontometaphyseal dysplasia Medial confluence of the breasts dysmorphism Intestinal lipophagic granulomatosis Tetraploidy Frontonasal dysplasia Symmastia Pterygium [yumpu.com]

colli - intellectual deficit - digital anomalies ■Pterygium of the conjunctiva, familial form ■PTLAH ■PTLD ■Ptosis - strabismus - ectopic pupils ■Ptosis - strabismus - rectus [wikicure.fandom.com]

[…] dysplasia Meconium aspiration syndrome papillary renal neoplasia Whipple disease Chromosome tetraploidy syndrome type Al gazali Medeira Dennis Donnai syndrome Pterigium Colli [yumpu.com]

Partington-Anderson Syndrome

colli Pterygium colli mental retardation digital anomalies Pterygium of the conjunctiva Pterygium syndrome antecubital Pterygium syndrome multiple dominant type Pterygium [ipfs.io]

colli mental retardation digital anomalies Pterygium of the conjunctiva Pterygium syndrome X linked Pterygium syndrome antecubital Pterygium syndrome multiple dominant type [mindmappedia.com]

15q13.3 Microdeletion Syndrome

She showed features suggestive of TS such as widely spaced nipples, Pterygium colli and coarctation of the aorta. [oatext.com]

Here we describe a TS girl diagnosed at only 8 months due to insufficient intrauterine growth, low birth weight (1.97 kg), Pterygium colli and coarctation of the aorta. [oatext.com]

The case presented common clinical characteristics of TS such as growth retardation, ovarian dysgenesis, widely spaced nipples, Pterygium colli and coarctation of the aorta [oatext.com]

Podder-Tolmie Syndrome

[…] hypospadias Pseudoxanthoma elasticum Pseudoxanthoma elasticum dominant form Pseudoxanthoma elasticum forme fruste Pseudoxanthoma elasticum recessive form Psittacosis Pterigium Colli [personalizedcause.com]

Tollner-Horst-Manzke Syndrome

Orotic Aciduria Type 2

colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. [mendelian.co]

[…] typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium [mendelian.co]

Distichiasis

She was initially evaluated because of a phenotype suggestive of Ullrich-Turner or Noonan syndrome (low posterior hairline, cupped ears, severe pterygium colli, heart murmur [ncbi.nlm.nih.gov]

Other less frequent congenital anomalies, such as pterygium colli and ptosis were found in some affected members. The previously reported cases were reviewed. [ncbi.nlm.nih.gov]

Ptosis, pterygium colli, lymphedema, cleft palate and a low posterior hairline can confuse the phenotype. [ncbi.nlm.nih.gov]

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]

Noonan Syndrome 3

Some affected individuals may also exhibit additional abnormalities including crossing of the eyes (strabismus) and/or mild webbing of the neck (pterygium colli). [rarediseases.org]