Amorphous Granulofilamentous Material Associated with Z-Discs, Congenital Malformation of the Eye & Prominent High Nasal Root: Causes & Reasons

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Possible Causes for Amorphous Granulofilamentous Material Associated with Z-Discs, Congenital Malformation of the Eye & Prominent High Nasal Root

Rigid Spine Syndrome

Associated distinctive features are dolicocephaly, prominent nasal root, oblique palpebral fissues, high-arched palate, low-set ears, short neck, and clinodactyly. [ncbi.nlm.nih.gov]

Congenital muscular dystrophy with eye and brain malformations in six Dutch patients. Neuropediatrics 1992;23:316-320. 184. [cyberleninka.org]

 Eye abnormalities include microphthalmos, hypoplastic optic nerve, ocular colobomas, retinal detachment, cataracts, glaucoma, iris malformation, and corneal opacities, [slideshare.net]

Schwartz-Jampel Syndrome

nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Ptosis [rarediseases.info.nih.gov]

Nearsightedness [ more ] 0000545 Osteoporosis 0000939 Overfolded helix Overfolded ears 0000396 Pectus carinatum Pigeon chest 0000768 Platyspondyly Flattened vertebrae 0000926 Prominent [rarediseases.info.nih.gov]

Hallermann-Streiff Syndrome

Background and History: This congenital malformation syndrome was described in the 1950s by a German ophthalmologist, Wilhelm Hallermann, and a Swiss ophthalmologist, Enrico [disorders.eyes.arizona.edu]

He had an unusually small body, “… a prominent nose, depressed nasal root, high-arched palate, low-set ears, and small mouth…”(Erciyes 130). [hallermann-streiff-awareness.weebly.com]

Congenital Cataract

We present a Hungarian girl with microcephaly, microphthalmia, congenital cataract, prominent nasal root, peaked nose, micrognathia with high arched palate, mild mental retardation [ncbi.nlm.nih.gov]

ICD-10-CM Codes › Q00-Q99 Congenital malformations, deformations and chromosomal abnormalities › Q10-Q18 Congenital malformations of eye, ear, face and neck › Q12- Congenital [icd10data.com]

Congenital malformations of the eye and orbit. Otolaryngol. Clin. North Am. 2007; 40(1):113-40, vii. PMID: 17346564 Ma, AS, et al. [invitae.com]

Congenital Disorder of Glycosylation Type 2A

GLOSSARY: ARCL = autosomal recessive congenital cutis laxa; CZE = capillary zone electrophoresis; DWM = Dandy-Walker malformation; FCMD = Fukuyama congenital muscular dystrophy [n.neurology.org]

[…] planus Flat feet Flat foot [ more ] 0001763 Posteriorly rotated ears Ears rotated toward back of head 0000358 Postnatal growth retardation Growth delay as children 0008897 Prominent [rarediseases.info.nih.gov]

Chudley-Rozdilsky Syndrome

See Schwannomatosis Congenital cystic adenomatoid malformation - See Cystic adenomatoid malformation of lung Congenital cystic eye Congenital cystic eye multiple ocular [elbiruniblogspotcom.blogspot.com]

[…] bilateral aplasia of vas deferens * Congenital bronchobiliary fistula * Congenital cardiovascular malformations * Congenital cardiovascular shunt * Congenital central hypoventilation [medicalgeek.com]

Optic Disc Coloboma

[…] segment of eye Q13.9 Congenital malformation of anterior segment of eye, unspecified Q14 Congenital malformations of posterior segment of eye Q14.0 Congenital malformation [icd10data.com]

Q18 Congenital malformations of eye, ear, face and neck (Q10-Q18)|Q14 Congenital malformations of posterior segment of eye Results for Congenital optic disc coloboma and [averbis.com]

[…] of posterior segment of eye Q14.9 Congenital malformation of posterior segment of eye, unspecified Q15 Other congenital malformations of eye Q15.0 Congenital glaucoma Q15.8 [icd10data.com]

Congenital Iris Coloboma

malformations of anterior segment of eye Q13.9 Congenital malformation of anterior segment of eye, unspecified Q14 Congenital malformations of posterior segment of eye Reimbursement [icd10data.com]

Q13.8 Other congenital malformations of anterior segment of eye Q13.81 Rieger's anomaly Q13.89 Other congenital malformations of anterior segment of eye Q13.9 Congenital [icd10coded.com]

Hydrophthalmos

[…] of posterior segment of eye, unspecified Q15 Other congenital malformations of eye Q15.0 Congenital glaucoma Q15.8 Other specified congenital malformations of eye Q15.9 Congenital [icd10data.com]

[…] segment of eye, unspecified Q14 Congenital malformations of posterior segment of eye Q14.0 Congenital malformation of vitreous humor Q14.1 Congenital malformation of retina [icd10data.com]

with glaucoma Macrocornea with glaucoma Macrophthalmos in congenital glaucoma Megalocornea with glaucoma Q15.8 Other specified congenital malformations of eye Q15.9 Congenital [icd10coded.com]

Lens Coloboma

Code Classification Congenital malformations, deformations and chromosomal abnormalities ( Q00-Q99 ) Congenital malformations of eye, ear, face and neck ( Q10-Q18 ) Congenital [icdlist.com]

Its systemic manifestations include preauricular tags, facial dysmorphism, anal atresia, congenital heart disease and urogenital malformation. 13 Cat-eye syndrome features [retinatoday.com]

Waardenburg Syndrome Type 4C

In some cases, characteristic facial, eye (ocular), and hearing (auditory) features of WS may occur in association with bilateral malformations of the arms and hands (upper [rarediseases.org]

[…] more ] 0005214 30%-79% of people have these symptoms Abdominal pain Pain in stomach Stomach pain [ more ] 0002027 Olfactory lobe agenesis Olfactory lobe absence 0001341 Prominent [rarediseases.info.nih.gov]

Congenital Malformation

What causes congenital malformations of the lids and eyes? The cause of many congenital malformations of the lids and eyes is not known. [nicklauschildrens.org]

Q15 Other congenital malformations of eye Q16 Congenital malformations of ear causing ... [icd10data.com]

Also known as: congenital disorders of the eyes, congenital and developmental eyelid abnormalities, congenital anomalies of the eyes What are congenital malformations of the [nicklauschildrens.org]

Congenital Disorder of Glycosylation Type 1Q

[…] bridge ; Prominent, high and nasal root; Tubular nose; [Mouth]; Thin upper lip; Drooling; [Teeth]; Crowded teeth ABDOMEN: [Gastrointestinal]; Chewing abnormalities GENITOURINARY [findzebra.com]

These disorders present with congenital muscular dystrophy, congenital brain and eye malformations and glycosylation defects. [academic.oup.com]

[…] disorder of glycosylation (SRD5A3-CDG), presenting with variable degree of cerebellar abnormalities, ataxia and eye malformations and caused by different SRD5A3 mutations [nature.com]

Ectopia Lentis

Category Congenital malformation Brite Human diseases [BR: br08402 ] Congenital malformations Congenital malformations of eye H00662 Ectopia lentis Human diseases in ICD-11 [genome.jp]

[…] segment of eye (Q13.8), congenital malformation syndromes predominantly affecting facial appearance (Q87.0), Marfan syndrome (Q87.4), and dislocation of lens (H27.1). [bmcophthalmol.biomedcentral.com]

Choroidal Coloboma

Environmental risk factors in congenital malformations of the eye. Ann Trop Paediatr 2002;22:67–77. 10. Hornby SJ, Ward SJ, Gilbert CE. [ispub.com]

Congenital malformations of the eye. In:Tasman W, Jaeger EA (eds) Duane’s Foundations of Clinical Ophthalmology, vol. 1, rev ed. [nature.com]

Roth Congenital eye malformations in 212,479 consecutive births Ann Genet, 40 (1997), pp. 122-128 [8] Y. Porges, R. Gershoni-Baruch, R. [journalofoptometry.org]

Waardenburg Syndrome Type 4B

In some cases, characteristic facial, eye (ocular), and hearing (auditory) features of WS may occur in association with bilateral malformations of the arms and hands (upper [rarediseases.org]

Frontonasal Dysplasia

Frontonasal dysplasia (FND) is a congenital midfacial malformation involving the nose, eyes, and forehead. [symptoma.com]

Frontonasal dysplasia (FND) is a congenital malformation of the central portion of the face, including the eyes, nose, and forehead. [ncbi.nlm.nih.gov]

Frontonasal dysplasias are rare congenital malformations of frontonasal process-derived structures, characterized by median cleft, nasal anomalies, widely spaced eyes, and [ncbi.nlm.nih.gov]

Pancreatic Insufficiency - Anemia - Hyperostosis

Symptoms are prominent frontoparietal bones, flat nasal root, short upturned nose, high forehead with ridging of the metopic and sagittal sutures, and lateral frontal prominences [diseaseinfosearch.org]

malformation of anterior chamber of eye 3712000 Degenerated eye 3716002 Thyroid goiter 3720003 Abnormal presence of hemoglobin 3723001 Joint inflammation 3733009 Congenital [build.fhir.org]

3696007 Functional dyspepsia 3699000 Transverse deficiency of arm 3703002 Ischiatic hernia with gangrene 3704008 Diffuse endocapillary proliferative glomerulonephritis 3705009 Congenital [build.fhir.org]

Waardenburg Syndrome

Minor criteria include skin hypopigmentation (congenital leukoderma); synophrys/medial eyebrow flare; broad high nasal root, prominent columella; hypoplastic nasal alae; premature [kjophthal.com]

In some cases, characteristic facial, eye (ocular), and hearing (auditory) features of WS may occur in association with bilateral malformations of the arms and hands (upper [rarediseases.org]

Minor Criteria : Skin hypopigmentation (congenital leukoderma), synophrys/medial eyebrow flare, broad/high nasal root, prominent columella, hypoplastic alae nasi, premature [preventiongenetics.com]

Anophthalmos

congenital malformation of lip NEC ( Q38.0 ) congenital malformation of nose ( Q30 .-) congenital malformation of parathyroid gland ( Q89.2 ) congenital malformation of [icd10coded.com]

Bermejo E, Martinez-Frias ML (1998) Congenital eye malformations: clinical-epidemiological analysis of 1,124,654 consecutive births in Spain. [link.springer.com]

Cat Eye Syndrome

The 22q11 region has been implicated in chromosomal rearrangements that result in altered gene dosage, leading to three different congenital malformation syndromes: DiGeorge [ncbi.nlm.nih.gov]

[…] syndrome, cat-eye syndrome (CES), and der(22) syndrome. [ncbi.nlm.nih.gov]

CHARGE Syndrome

CHARGE syndrome is manifested by many congenital malformations: malformations of the eye, heart, nose, growth and psychomotor development delay, genito-urinary problems, ear [icm-institute.org]

[…] ear with inner, middle and outer ear malformations. [sickkids.ca]

Minor characteristics are congenital heart defects, hypoplastic genitals, cleft palate and/or lip and a characteristic CHARGE face and hand. [sickkids.ca]

Choroid Hemangioma

Congenital vascular malformations of the retina and choroid. Eye (Lond). 2010;24:459-467. 7. Singh AD, De Potter P, Shields CL, Shields JA. [retinalphysician.com]

PMID 14693769 Congenital vascular malformations of the retina and choroid. Heimann H, Damato B. Eye (Lond). 2010 Mar;24(3):459-67. Epub 2009 Dec 18. [atlasgeneticsoncology.org]

Oculocerebrorenal Syndrome

Zimmerman LE, Font RL: Congenital malformations of the eye. JAMA 196:684-692, 1966. 9. [healio.com]

Foveal Retinoschisis

malformations, deformations, and chromosomal abnormalities ( Q00-Q99 ) diabetes mellitus related eye conditions ( E09.3-, E10.3-, E11.3-, E13.3- ) endocrine, nutritional [icd10data.com]

[…] originating in the perinatal period ( P04 - P96 ) certain infectious and parasitic diseases ( A00-B99 ) complications of pregnancy, childbirth and the puerperium ( O00-O9A ) congenital [icd10data.com]

10-CM Range H00-H59 Diseases of the eye and adnexa Note Use an external cause code following the code for the eye condition, if applicable, to identify the cause of the eye [icd10data.com]

Septo-Optic Dysplasia

Other ocular malformations were anterior segment dysgenesis in the right eye and congenital cataract or lens abnormality in the left eye. [ncbi.nlm.nih.gov]

Oral-Facial-Digital Syndrome Type 6

Orofacial digital syndrome (OFDS) is a rare congenital disorder characterized by a range of clinical anomalies, such as malformations of the oral cavity including mouth, tongue [bmcmusculoskeletdisord.biomedcentral.com]

[…] eyebrows High-arched eyebrows Thick, flared eyebrows [ more ] 0002553 Hypothalamic hamartoma 0002444 Mesoaxial polydactyly 0100260 Midline notch of upper alveolar ridge 0009084 Prominent [rarediseases.info.nih.gov]

TORCH Syndrome

Late congenital syphilis often affects the eyes, resulting in interstitial keratitis (inflammation of the cornea), ears, joints, and central nervous system. [dermnetnz.org]

Characteristic signs of congenital syphilis include Hutchinson teeth, bowed sabre shins (malformation of the tibia, with bowing or convexity) and the typical facial appearance [dermnetnz.org]

Retinopathy of Prematurity

malformations, deformations, and chromosomal abnormalities ( Q00-Q99 ) diabetes mellitus related eye conditions ( E09.3-, E10.3-, E11.3-, E13.3- ) endocrine, nutritional [icd10data.com]

10-CM Range H00-H59 Diseases of the eye and adnexa Note Use an external cause code following the code for the eye condition, if applicable, to identify the cause of the eye [icd10data.com]

Congenital Exophthalmos

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