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Cerebro-Facio-Articular Syndrome

Van Maldergem syndrome


Presentation

  • The latter malformations are not present in our patient. In conclusion, the presented case report further delineates the very characteristic entity of van Maldergem syndrome.[kundoc.com]
  • Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia.[orpha.net]
  • The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • In this report we present a 5-year-old girl with very similar clinical findings. We confirm the existence of this condition as an independent clinical entity, and we propose that, based on the major clinical… CONTINUE READING[semanticscholar.org]
  • Treatment is based on the signs and symptoms present in each person. MalaCards based summary : Van Maldergem Syndrome, also known as van maldergem wetzburger verloes syndrome, is related to van maldergem syndrome 1 and hennekam syndrome.[malacards.org]
Poor Feeding
  • Infectious disease H01367 Infantile liver failure Infantile liver failure is a life-threatening condition characterized by poor feeding, vomiting, jaundice, distended abdomen, hemorrhagic diathesis, and hypoactivity.[kegg.jp]
  • He required a gastrostomy and PEG for poor feeding. The kidneys were small with evidence of nephrocalcinosis. At the age of 1 year he had mild to moderate developmental delay, height was 1 SD, weight 2.5 SD and head circumference 1.5 SD.[nature.com]
Pharyngitis
  • The presented patient adds additional features to the phenotype such as genital malformation, and the clinical course of the condition e pharyngeal instability and feeding difficulties.[kundoc.com]
Malocclusion
  • He showed bilateral epicanthus, telecanthus, short palpebral fissures, broad flat nasal bridge, and dental malocclusion.[kundoc.com]
  • The mouth had a tented upper lip, high palate with thickened gums, dental malocclusion, micrognathia, bilateral microtia with meatal atresia and conductive hearing loss were also present ( Figure 1a and ).[nature.com]
Muscle Hypotonia
  • Minor diagnostic criteria include a characteristic high-pitched voice (96%), hepatomegaly (70%), muscle hypotonia (60%), and cutaneous naevi flammei (65%), lumbar lordosis, very thin ribs, and fibrous dysplasia of long bones (25%) (tibia).[sites.uclouvain.be]
Narrow Forehead
  • We report another case of cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome) characterized by mental retardation and characteristic facies: narrow forehead, synophris, hypertelorism, broad nasal bridge, long philtrum, micrognathia, triangular-shaped[pubfacts.com]
Large Anterior Fontanels
  • He was noted at birth to be hypotonic and dysmorphic with a large, anterior fontanelle, sacral dimple, anal stenosis and camptodactyly of the fingers with flexion deformities of the PIP joints.[nature.com]
Cryptorchidism
  • The medical history was further on significant for pharyngeal instability requiring the placement of a tracheostomy tube, an inguinal hernia, hip subluxation, small kidneys and genital abnormalities (micropenis, bifid scrotum, cryptorchidism).[kundoc.com]

Workup

Small Kidney
  • Renal ultrasound demonstrated bilateral small kidneys with large adrenal glands. Patient 5, the fifth child of these parents, was born following an unremarkable pregnancy.[nature.com]
  • The medical history was further on significant for pharyngeal instability requiring the placement of a tracheostomy tube, an inguinal hernia, hip subluxation, small kidneys and genital abnormalities (micropenis, bifid scrotum, cryptorchidism).[kundoc.com]

Treatment

  • The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
  • Treatment is based on the signs and symptoms present in each person. MalaCards based summary : Van Maldergem Syndrome, also known as van maldergem wetzburger verloes syndrome, is related to van maldergem syndrome 1 and hennekam syndrome.[malacards.org]
  • Treatment is based on the signs and symptoms present in each person. [1] [2] Last updated: 4/23/2017[rarediseases.info.nih.gov]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]

Prognosis

  • Early treatment with copper may improve the prognosis in some affected individuals.[findzebra.com]
  • Acute spinal cord ischemia syndrome (ASCIS) is uncommon, but usually presents with profound neurological signs and symptoms, and the prognosis is poor.[radiopaedia.org]

Etiology

  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • The etiology is thought to be due to changes of position of the otoliths in the inner ear, most commonly into the posterio... Bertolotti syndrome refers to the association between lumbosacral transitional vertebrae and low back pain.[radiopaedia.org]

Epidemiology

  • 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.es]
  • Relevant External Links for DCHS1 Genetic Association Database (GAD) DCHS1 Human Genome Epidemiology (HuGE) Navigator DCHS1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: DCHS1 No data available for Genatlas for DCHS1 Gene Multiple cadherins[genecards.org]
  • Epidemiology of Helicobacter pylori infection: where are we in 1995? Expression in Escherichia coli of chemically synthesized genes for human insulin.[sarcomacancer.org]
Sex distribution
Age distribution

Pathophysiology

  • X syndrome, and other autism spectrum disorders, as well as their classification as synaptopathies Presents a thorough discussion of the clinical aspects of multiple neurodevelopmental disorders and the experimental models that exist to study their pathophysiology[books.google.es]

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]
  • 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.es]
  • Cognitive Restructuring Exercises to Improve Your Mood and Reduce Stress: Cognitive restructuring is a core. by Flickety – umantinics.tk How to Survive a Heat Wave (with Pictures) - wikiHow plastic welding, the use of Nitrogen proved most successful in preventing[umantinics.tk]
  • Centers for Disease Control and Prevention Intersex [ Read More ][icdlist.com]
  • Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms Ehlers-Danlos syndrome, dermatosparaxis type Ehlers-Danlos syndrome (EDS), dermatosparaxis type is an inherited connective tissue disorder[findzebra.com]

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