Presentation
The present case had ACC on the right vertex. [scielo.br]
The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]
Additional ocular anomalies such as skin tags of the upper eyelid, rarely optic nerve or retinal changes, and microphthalmia can be present. [uniprot.org]
Additional ocular anomalies such as skin tags of the upper eyelid and rarely optic nerve or retinal changes or microphthalmia can be present. [malacards.org]
Entire Body System
- Movement Disorder
[…] diaphragmatic hernia Pericardium absent mental retardation short stature Pericardium congenital anomaly Perilymphatic fistula Perimyositis Perinatal infections Periodic disease Periodic fever, aphthous stomatitis, pharyngitis and adenitis Periodic limb movement [sosu.us]
Respiratoric
- Pneumonia
In 1 family, 2 brothers had episodes of agitation associated with pneumonia and rhabdomyolysis. [findzebra.com]
Analysis of humoral and phagocytic defenses against Streptococcus pneumoniae serotypes 1 and 3. This is noted because activated platelets emerge to be an intrinsic qualification seeking the phenomenon of the symptomatic lesions. [warmbutter.com]
Pneumocystosis Pneumonia, eosinophilic Pneumonoultramicroscopicsilicovolcanoconiosis Pneumothorax Po Pod–Poi • Pol • Pom–Por • Pos–Pox Pod–Poi Podder-Tolmie syndrome POEMS syndrome Poedimus kyleopecia mental retardation Poikiloderma congenital with bullae [sosu.us]
Musculoskeletal
- Thumb Absence
absence hypoplastic halluces Thumb absent short stature immune deficiency Thumb deformity, alopecia, pigmentation anomaly Thumb stiff brachydactyly mental retardation Thymic renal anal lung dysplasia Thyrocerebrorenal syndrome Thyroid carcinoma, follicular [mindmappedia.com]
Thumb absence hypoplastic halluces[?] Thumb absent short stature immune deficiency[?] Thumb deformity, alopecia, pigmentation anomaly[?] Thumb deformity[?] Thumb stiff brachydactyly mental retardation[?] Thymic epithelial tumor[?] [encyclopedia.kids.net.au]
absence hypoplastic halluces Thumb absent short stature immune deficiency Thumb deformity, alopecia, pigmentation anomaly Thumb deformity Thumb stiff brachydactyly mental retardation Thy Thymic carcinoma Thymic epithelial tumor Thymic renal anal lung [bionity.com]
Face, Head & Neck
- Pierre Robin Syndrome
[…] sequence faciodigital anomaly Pierre Robin syndrome fetal chondrodysplasia Pierre Robin syndrome hyperphalangy clinodactyly Pierre Robin syndrome skeletal dysplasia polydactyly Pierre Robin's sequence Pigmentary retinopathy Pigment dispersion syndrome [sosu.us]
Neurologic
- Tremor
Transient erythroblastopenia of childhood Transient neonatal arthrogryposis Transitional cell carcinoma Transplacental infections Transposition of great vessels Transverse limb deficiency hemangioma Treacher Collins syndrome Treft Sanborn Carey syndrome Tremor [mindmappedia.com]
Tremor hereditary essential Treponema infection[?] Trevor disease[?] Triatrial heart[?] Trichinellosis Trichinosis Tricho dento osseous syndrome type 1[?] Tricho odonto onycho dermal syndrome[?] [encyclopedia.kids.net.au]
Transitional cell carcinoma Transplacental infections Transposition of great vessels Transverse limb deficiency hemangioma Transverse myelitis TRAPS (TNF-receptor-associated periodic syndrome) Tre Treacher Collins syndrome Treft Sanborn Carey syndrome Tremor [bionity.com]
[…] amnesia Transient neonatal arthrogryposis Transitional cell carcinoma Transplacental infections Transposition of great vessels Transverse limb deficiency hemangioma Transverse myelitis TRAPS Tre Treacher Collins syndrome Treft–Sanborn–Carey syndrome Tremor [ipfs.io]
- Spastic Paraplegia
[…] deafness Spastic paraplegia neuropathy poikiloderma Spastic paraplegia type 1, X-linked Spastic paraplegia type 2, X-linked Spastic paraplegia type 3, dominant Spastic paraplegia type 4, dominant Spastic paraplegia type 5A, recessive Spastic paraplegia [sosu.us]
[…] due to 11-Beta-hydroxylase and growth retardation classic type paraplegia deficiency Toriello-Higgins-Miller syndrome mild classic type Ehlers-Danlos Spastic paraplegia with Kallmann Binswanger disease syndrome syndrome Adrenal hy per plasia 4 congenital [yumpu.com]
Workup
Rhythm
- Torsades De Pointes
de pointes Torsion dystonia 7 Torticollis Torticollis keloids cryptorchidism renal dysplasia Torulopsis Tosti–Misciali–Barbareschi syndrome Total hypotrichosis, Mari type Tou–Tox Touraine–Solente–Golé syndrome Tourette syndrome Townes–Brocks syndrome [ipfs.io]
de pointes Torsion dystonia 7 Torticollis Torticollis keloids cryptorchidism renal dysplasia Torulopsis Tosti–Misciali–Barbareschi syndrome Total hypotrichosis, Mari type Tou–Tox [ edit ] Touraine–Solente–Golé syndrome Tourette syndrome Townes–Brocks [en.wikipedia.org]
[…] due to 11-Beta- Torres ayber syndrome biotin responsive Multiple Ehlers-Danlos syndrome type Familial spastic paraplegia with hydroxylase deficiency Adrenal carboxylase deficiency 1 Kallmann's syndrome hy per plasia Adrenal hy per plasia congenital Torsade-de-pointes [yumpu.com]
Treatment
The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]
Before taking any medication, always check with a qualified professional for healthcare information, treatment advice. [rarediseases.oscar.ncsu.edu]
Synonyms Oculoectodermal syndrome_x000D_ Aplasia cutis congenita-epibulbar dermoids syndrome Name in a foreign language - Inheritance Autosomal dominant or Autosomal recessive CONTENT INFORMATION Textual description Etiology Forecast Differential diagnosis Treatment [retkebolesti.com]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
Prognosis
Prognosis - Toriello Lacassie Droste syndrome Not supplied. Treatment - Toriello Lacassie Droste syndrome Not supplied. Resources - Toriello Lacassie Droste syndrome Not supplied. [checkorphan.org]
It additionally serves as a teaching point to emphasize the importance of pursuing a definite diagnosis when faced with such a multisystem illness, to counsel patients and their parents regarding long term morbidity and overall prognosis. [qscience.com]
Prognosis The overall 10-year survival of liposarcomas ranges from 50% to 85%. 20 Primary orbital liposarcomas have a favorable prognosis, as no cases have been reported to develop metastasis. [entokey.com]
Etiology
Toriello-Lacassie-Droste syndrome Synonyms Oculoectodermal syndrome_x000D_ Aplasia cutis congenita-epibulbar dermoids syndrome Name in a foreign language - Inheritance Autosomal dominant or Autosomal recessive CONTENT INFORMATION Textual description Etiology [retkebolesti.com]
They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]
[…] of unknown etiology. [docksci.com]
The genetic cause is not fully understood, but there is evidence ... https://rarediseases.info.nih.gov/diseases/5225/toriello-carey-syndrome Orphanet: Toriello Carey syndrome The etiology of Toriello-Carey syndrome is not fully understood, but there is [keyword-suggest-tool.com]
Hypotheses suggested for its etiology include autosomal recessive inheritance, tumor suppressor gene mutation, genetic defect in transcription factor that controls eye development, de novo mutation, and mosaicism.66 James PA, McGaughran J. [scielo.br]
Epidemiology
[…] congenita-epibulbar dermoids syndrome Name in a foreign language - Inheritance Autosomal dominant or Autosomal recessive CONTENT INFORMATION Textual description Etiology Forecast Differential diagnosis Treatment Diagnostic methods Antenatal diagnosis Epidemiology [retkebolesti.com]
Epidemiology Only four cases have been reported in the literature, in three unrelated families. https://rarediseases.info.nih.gov/diseases/3078/kapur-toriello-syndrome Toriello Carey syndrome - Conditions - GTR - NCBI The Toriello-Carey syndrome is a [keyword-suggest-tool.com]
Liposarcoma Epidemiology Liposarcoma is the most common soft tissue (nonosteogenic) sarcoma in adults, comprising 20% of all sarcomas. It most commonly affects the thigh and the retroperitoneum but rarely involves the ocular region. [entokey.com]
This has led to more distant analysis of the previously published epidemiological data, which has revealed that the use of NSAIDs prevents cognitive failing in older adults if started in midlife (previous to to maturity 65) degree than news in person [warmbutter.com]
Pathophysiology
Acute inflammation in the lungs is a complex pathophysiological mechanism involving inflammatory mediators such as cytokines and chemokines, which stimulate the macrophages in the alveoli, leading to poor regulation of the immune system. [curofy.com]
Pathophysiology and treatment. Yale J Biol Med 1993; 66 (3): 143–155. 54. Nagore E, Sánchez-Motilla JM, Febrer MI, Cremades B, Aleu M, Aliaga A. Radius hypoplasia, radial palsy, and aplasia cutis due to amniotic band syndrome. [nature.com]
Prevention
And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]
Prevention - Toriello Lacassie Droste syndrome Not supplied. Diagnosis - Toriello Lacassie Droste syndrome Not supplied. Prognosis - Toriello Lacassie Droste syndrome Not supplied. Treatment - Toriello Lacassie Droste syndrome Not supplied. [checkorphan.org]
This early fusion prevents the skull from growing normally and affects the shape of the head and face. Beare-Stevenson cutis gyrata syndrome is caused by mutations in the FGFR2 gene. [findzebra.com]