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]
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]
[…] 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]
[…] 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]
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]
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]
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]
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]
Pterygium colli-mental retardation-digital anomalies Pterygium colli, ptosis, upslanting palpebral fissures, hypertelorism, broad nasal base and bridge, epicanthus inversus
[en.wikibooks.org]
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]
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]
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]
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]
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]
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]
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]
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]
colli mental retardation digital anomalies Pterygium of the conjunctiva Pterygium syndrome X linked Pterygium syndrome antecubital Pterygium syndrome multiple dominant type
[mindmappedia.com]
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]
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]
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]
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]
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]
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]
[…] 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]
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]
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]
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]
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]
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]
[…] 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]
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]