Presentation
The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]
Choroid plexus-like tissue can be present within the cyst wall. This ectopic tissue secretes cerebrospinal fluid, resulting in progressive distention of the cyst ( Diakoumakis et al., 1986 ). [mhmedical.com]
These appear to be unique combinations of defects but overlap with the Gollop‐Wolfgang complex is present, particularly with the case of possible Gollop‐Wolfgang described by Raas‐Rothschild et al. (1999); Am J Med Genet 84:361–364. © 2005 Wiley‐Liss, [scipers.com]
Syndactyly, oligodactyly or polydactyly may also be present 4. It may also be detected antenatally during obstetric ultrasound evaluation for fetal anomalies 3. [radiopaedia.org]
Entire Body System
- Multiple Congenital Anomalies
congenital anomaly Thrombocytopenia purpura Thrombocytopenia Robin sequence Thrombocytopenia Thrombocytopenic purpura, autoimmune Thrombocytosis Thrombomodulin anomalies, familial Thrombotic microangiopathy, familial Thrush Thumb absence hypoplastic [bioreference.net]
PMID: 1897578 Yang SS, Roth JA, Langer LO Jr.Short rib syndrome Beemer-Langer type with polydactyly: a multiple congenital anomalies syndrome.Am J Med Genet. 1991 Jun 1;39(3):243-6. [humpath.com]
congenital anomalies-hypotonia-seizures syndrome Multiple epiphyseal dysplasia Multiple epiphyseal dysplasia and pseudoachondroplasia Multiple epiphyseal dysplasia due to collagen 9 anomaly Multiple epiphyseal dysplasia type 1 Multiple epiphyseal dysplasia [se-atlas.de]
- Precocious Puberty
puberty-obesity syndrome X-linked intellectual disability-psychosis-macroorchidism syndrome X-linked intellectual disability-retinitis pigmentosa syndrome X-linked intellectual disability-seizures-psoriasis syndrome X-linked intellectual disability-spastic [se-atlas.de]
- Inflammation
ヒグローマ】*hygroma axillare[L] 【円形脱毛症】*alopecia areata *alopecia circumscripta 【円錐角膜】*keratoconus 【円柱腫】*cylindroma 【嚥下困難】【嚥下障害】*dysphagia 【嚥下性肺炎】*deglutition pneumonia ^=吸引性肺炎、吸入性肺炎 【嚥下痛】*deglutition pain *odynophagia 【嚥下不能症】*aphagia 【遠視】*hyperopia 【炎症】*inflammation [medo.jp]
Retina. (1) Angiomatosis (759.6), or other congenitohereditary retinal dystrophy (362.7) that impairs visual function. (2) Chorioretinitis or inflammation of the retina (363), including histoplasmosis, toxoplasmosis, or vascular conditions of the eye [endusmilitarism.org]
- Swelling
[…] hemorrhoids[pl] 【出血性腎炎】*hemorrhagic nephritis 【出血性大腸炎】*hemorrhagic colitis ^=出血性結腸炎 【出血性脳炎】*hemorrhagic encephalitis 【出血性脳症】*hemorrhagic encephalopathy 【出血性膀胱炎】*hemorrhagic cystitis 【出血痘】*hemorrhagic vaccinia 【出血熱】*hemorrhagic fever (略 HF) (腫) 【腫大】【腫脹】*swelling [medo.jp]
Gastrointestinal
- Vomiting
[…] combination, of 1 hour or less, are unfit for at least 1 month after injury; after which they may be acceptable if neurological evaluation shows no residual dysfunction or complications. (5) Persistent post-traumatic sequelae, as manifested by headache, vomiting [endusmilitarism.org]
/*vomition/*vomitus *emesis (カ) 【カタル性胃炎】*catarrhal gastritis 【カタル性炎】*catarrhal inflammation 【カタル性舌炎】*catarrhal glossitis *glossitis catarrhalis[L] 【カフェオーレ斑】*cafe-au-lait spot 【カポジ肉腫】*Kaposi's sarcoma 【カリウム血症】*kalemia 【カリウム欠乏症】*kaliopenia 【カリニ肺炎】*pneumocystis [medo.jp]
- Nausea
[…] neoplasm (=悪性腫瘍) 【悪性組織球症】*malignant histiocytosis (略 MH) 【悪性中皮腫】*malignant mesothelioma 【悪性貧血】*pernicious anemia 【悪性黒子】*lentigo maligna[L] 【悪性黒子黒色腫】*lentigo maligna melanoma (略 LMM) 【悪性傍神経節腫】*malignant paraganglioma 【悪性リンパ腫】*malignant lymphoma 【悪心】*nausea [medo.jp]
Cardiovascular
- Hypertension
[…] lyase deficiency Adie syndrome Adiposa dolorosa Adolescent benign focal crisis Adrenal adenoma, familial Adrenal cancer Adrenal disorder Adrenal gland hyperfunction Adrenal gland hypofunction Adrenal hyperplasia, congenital Adrenal hyperplasia Adrenal hypertension [starrepublic.org]
Occurs frequently in high risk populations -Places the mother and fetus at risk - May be associated with small placentas because of the effect of the hypertension on the blood vessels -Preeclampsia and eclampsia High blood pressure develops with proteinuria [brainscape.com]
【高血圧】*hypertension 【高血圧眼底】*fundus hypertonicus[L] 【高血圧性心疾患】*hypertensive heart disease (略 HHD) 【高血圧性脳症】*hypertensive encephalopathy 【高血圧性網膜症】*hypertensive retinopathy 【高血圧発作】*hypertensive episode 【高血糖症】*hyperglycemia =過血糖症 【高コレステロール血症】*cholesterolemia [medo.jp]
Hypertensive vascular disease (401), evidenced by the average of three consecutive diastolic blood pressure measurements greater than 90 mmHg or three consecutive systolic pressure measurements greater than 140 mmHg. [endusmilitarism.org]
Mseleni type Brachydactyly type A1 Brachydactyly type A2 Brachydactyly type A4 Brachydactyly type A5 Brachydactyly type A6 Brachydactyly type A7 Brachydactyly type B Brachydactyly type B2 Brachydactyly type C Brachydactyly type E Brachydactyly-arterial hypertension [se-atlas.de]
Musculoskeletal
- Bowing of The Long Bones
Clinical description The syndrome is characterized by absence or hypoplasia of the tibia, pre and postaxial polydactyly of the hands and/or feet, syndactyly of the toes, shortening and bowing of other long bones, and retrocerebellar arachnoid cyst. [rarediseases.info.nih.gov]
Neurologic
- Headache
Recurrent headaches (784) of all types if they are of sufficient severity or frequency to interfere with normal function within 3 years. e. [endusmilitarism.org]
[…] hemorrhage 【頭蓋内腫瘍】*intracranial tumor 【頭蓋内損傷】*intracranial injury 【頭蓋披裂】【頭蓋裂】*cranioschisis (=二分頭蓋) 【頭蓋病】*craniopathy 【頭蓋骨縫合早期癒合症】【頭蓋骨癒合症】*craniosynostosis (=狭頭症) 【頭胸結合体】*cephalothoracopagus 【頭血腫】*hematocephaloma *hematocephalus *cephalohematoma 【頭痛】*headache [medo.jp]
Treatment
However, there is now a growing understanding reflected in the international literature among neurologists and neurosurgeons that arachnoid cysts do harm and that the patients’ complaints can be relieved by surgical treatment. [books.google.com]
Orthodontic appliances for continued treatment (V53.4) (attached or removable). Retainer appliances are permissible, provided all active orthodontic treatment has been satisfactorily completed. 2–6. [endusmilitarism.org]
Treatment - Tibia absent polydactyly arachnoid cyst * Neurology (Brain/CNS Specialists): * Neurology (Brain/CNS Specialists) * Pediatric Neurology (Child Brain Specialist) * Pediatric Neurosurgery (Child Neurosurgeon) * Clinical Neurophysiology * Neurodevelopment [checkorphan.org]
If you or a family member has been diagnosed with tibia absent polydactyly arachnoid cyst, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information. [diseaseinfosearch.org]
Prognosis
Prognosis - Tibia absent polydactyly arachnoid cyst Not supplied. [checkorphan.org]
Prognosis depends on the presence of other malformations, parenchymal hemorrhage, rate of cyst growth, and progession of ventriculomegaly. [mhmedical.com]
Thus, the prognosis should be individualized depending on specific etiology, but this cannot always be determined antenatally. [glowm.com]
Etiology
Arachnoid Cysts: Epidemiology, Biology, and Neuroimaging gives a broad and updated presentation of the condition, including epidemiology, etiology, biology (including genetics and molecular biology), and neuroimaging of same. [books.google.com]
The etiology of urinary tract abnormalities should extend beyond the apparent site of the lesion. [glowm.com]
Etiology genetic enviromental — teratogenic agents such as certain drugs, maternal diabetes, congenital varicella infection. [atlases.muni.cz]
Epidemiology
Arachnoid Cysts: Epidemiology, Biology, and Neuroimaging gives a broad and updated presentation of the condition, including epidemiology, etiology, biology (including genetics and molecular biology), and neuroimaging of same. [books.google.com]
Arachnoid Cyst, and Other Anomalies: Name: Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 57 Absent Tibia-Polydactyly-Arachnoid Cyst Syndrome 59 Holmes-Collins Syndrome 59 Characteristics: Orphanet epidemiological [malacards.org]
Epidemiology It has been described in 3 sibs (two males and one female). [rarediseases.info.nih.gov]
Pathophysiology
Gives a detailed account of all pathophysiological aspects of arachnoid cysts Covers epidemiology, etiology, biology, genetics and molecular biology and neuroimaging of arachnoid cysts Discusses present controversies in cyst management in a historical [books.google.com]
The high risk fetus: Pathophysiology, diagnosis and management. [glowm.com]
Prevention
The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]
Prevention - Tibia absent polydactyly arachnoid cyst Not supplied. Diagnosis - Tibia absent polydactyly arachnoid cyst Not supplied. Prognosis - Tibia absent polydactyly arachnoid cyst Not supplied. [checkorphan.org]
Insufficient natural healthy teeth (521) or lack of a serviceable prosthesis, preventing adequate mastication and incision of a normal diet. [endusmilitarism.org]
Early treatment of this condition (less than 20 weeks' gestation) is important to prevent permanent renal damage. [glowm.com]