Homepage Rare diseases Search Search for a rare disease Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome Disease definition A rare and fatal central nervous system malformation occurring during embryogenesis, presenting [orpha.net]

It occurs before conception.[2][3] Presentation[edit] There are various signs and symptoms that manifest in people with this disorder, these include (but are not limited to): holoprosencephaly, fetal hypokinesia, microcephaly, various contractures across [en.wikipedia.org]

Discussion In 1987, Morse et al. (1987) described two consecutive male fetuses that presented decreased fetal activity, multiple congenital contractures, microcephaly and holoprosencephaly (Table 1). [thefetus.net]

It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. [bioportal.bioontology.org]

• Short Stature

  […] anomalies Mental retardation short stature hypertelorism Mental retardation short stature microcephaly eye Mental retardation short stature ocular and articular anomalies Mental retardation short stature scoliosis Mental retardation short stature unusual [personalizedcause.com]

  stature Microdontia, hypodontia, short bulbous roots and root canals with strabismus, short stature, and borderline mentality - See Microdontia hypodontia short stature Microduplication 15q13.3 syndrome - See 15q13.3 microduplication syndrome Microduplication [herenciageneticayenfermedad.blogspot.com]

  stature vertebral anomalies Cluster headache - Not a rare disease COACH syndrome COASY Protein-Associated Neurodegeneration Coats disease Cobb syndrome Cockayne syndrome type I Cockayne syndrome type II Cockayne syndrome type III Coenzyme Q10 deficiency [braintherapeutics.gr]

• Movement Disorder

  In addition, there are hundreds of other rare diseases, including cerebrovascular diseases, neurometabolic disorders, neuromuscular and neurodegenerative disorders, movement disorders, epilepsies and episodic disorders, channelopathies, mitochondrial [braintherapeutics.gr]

  See Congenital mirror movement disorder Mirror polydactyly segmentation and limbs defects Mismatch Repair Cancer Syndrome - See Turcot syndrome Mismatch Repair Deficiency - See Turcot syndrome Misophonia Missouri type of spondyloepimetaphyseal dysplasia [herenciageneticayenfermedad.blogspot.com]

• Developmental Disorder

  […] of body system 362965005 Contracture of joint 7890003 Genetic disease 782964007 Congenital disease 66091009 Disorder of joint region 785875003 Limitation of joint movement 70733008 Deformity 417893002 Developmental disorder 5294002 Finding of head and [findacode.com]

  It is due to two developmental disorders: Incomplete cleavage of prosencephaly at day 22-23 of embryonic development and absence or a defect of neural crest cell migration from the mesencephalon (including lack of development of the first branchial arch [fetalultrasound.com]

• Small Head

  […] size of skull Reduced head circumference Small head circumference [ more ] 0000252 Multiple joint contractures 0002828 30%-79% of people have these symptoms Camptodactyly of finger Permanent flexion of the finger 0100490 Enlarged thorax Wide rib cage [rarepulmonologynews.com]

• Low Set Ears

  ears Low set ears Lowset ears [ more ] 0000369 Short neck Decreased length of neck 0000470 Sloping forehead Inclined forehead Receding forehead [ more ] 0000340 5%-29% of people have these symptoms Abnormal dermatoglyphics Abnormal fingerprints 0007477 [rarepulmonologynews.com]

  Low set ears (under the face and almost fused together in the midline of the neck creases). Pinnae are usually well formed. Hypotelorism / ± Cyclopia. ± Holoprosencephaly (see in 50% of cases in one series). Prominent eyes and no lids. Proboscis. [fetalultrasound.com]

  ears Short neck Sloping forehead Abnormal dermatoglyphics Abnormality of the diencephalon Adducted thumb Aplasia/Hypoplasia of the cerebellum Aplasia/Hypoplasia of the corpus callosum Blepharophimosis Cerebral cortical atrophy Deeply set eye Hydranencephaly [dovemed.com]

• Reduced Fetal Movement

  Home / Disease / Morse Rawnsley Sargent syndrome Overview A very rare syndrome characterized mainly by abnormal brain development and reduced fetal movement. [checkorphan.org]

• Short Neck

  neck Decreased length of neck 0000470 Sloping forehead Inclined forehead Receding forehead [ more ] 0000340 5%-29% of people have these symptoms Abnormal dermatoglyphics Abnormal fingerprints 0007477 Abnormal pleura morphology 0002103 Abnormality of [rarepulmonologynews.com]

  neck Sloping forehead Abnormal dermatoglyphics Abnormality of the diencephalon Adducted thumb Aplasia/Hypoplasia of the cerebellum Aplasia/Hypoplasia of the corpus callosum Blepharophimosis Cerebral cortical atrophy Deeply set eye Hydranencephaly Intrauterine [dovemed.com]

• Akinesia

  Morse-Rawnsley-Sargent syndrome Other names Holoprosencephaly with fetal akinesia/hypokinesia sequence[1] This disorder is inherited in an X-linked recessive manner Specialty Medical genetics, Pediatry Symptoms brain malformations Complications Death [en.wikipedia.org]

  Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited. Birth Defects Research (Part A), 85, 677–694. CrossRef CAS Google Scholar Hammond, E., & Donnenfeld, A. E. (1995). Fetal akinesia. [link.springer.com]

  It occurs before conception.[2][3] Morse-Rawnsley-Sargent syndrome Other names Holoprosencephaly with fetal akinesia/hypokinesia sequence[1] This disorder is inherited in an X-linked recessive manner Specialty Medical genetics, Pediatry Symptoms brain [wikiwand.com]

  Other names (AKA) Holoprosencephaly with fetal akinesia/hypokinesia sequence Categories Congenital and Genetic Diseases; Nervous System Diseases Summary The following summary is from Orphanet, a European reference portal for information on rare diseases [rarepulmonologynews.com]

(Answer: BвGiven his young age and the appearance of the nodule, no further workup isnecessary at this time; follow-up chest x-ray in to months is recommended). He has no symp-toms except for mild pain on the right flank and headache of new onset. [retain24.com]

• Small Kidney

  […] jaw Small lower jaw [ more ] 0000347 Renal hypoplasia/aplasia Absent/small kidney Absent/underdeveloped kidney [ more ] 0008678 Percent of people who have these symptoms is not available through HPO Fetal akinesia sequence 0001989 X-linked inheritance [rarepulmonologynews.com]

The following resources can be used to stay informed about new treatments and research results related to a rare disease: PubMed PubMed is a database of published research articles. [rarediseases.info.nih.gov]

The complications of Morse-Rawnsley-Sargent Syndrome may include: Reduced fetal activity Inability to survive in the fetal stage Complications may occur with or without treatment, and in some cases, due to treatment also. [dovemed.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]

The therapist willbegin treatment with lymphatic drainage that aids in recovery& METHODEndermologie is ideal in the treatment of the different forms of cellulite, but precise pro-tocols of technique are necessary (). [retain24.com]

Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. [rarepulmonologynews.com]

What is the Prognosis of Morse-Rawnsley-Sargent Syndrome? (Outcomes/Resolutions) The prognosis of Morse-Rawnsley-Sargent Syndrome is poor. [dovemed.com]

(Etiology) The exact cause of Morse-Rawnsley-Sargent Syndrome is not known at the present time Based on affected individuals being males, with some related through females in the family, it appears that the condition is inherited in an X-linked manner [dovemed.com]

A challenge towards etiological diagnosis and management. Genetic Counseling, 1, 35–40. PubMed CAS Google Scholar Gullino, F., Abrate, M., Zerbino, E., et al. (1993). [link.springer.com]

Currently, Morse-Rawnsley-Sargent Syndrome may not be preventable, since it is a genetic disorder. [dovemed.com]

[…] disorder is inherited in an X-linked recessive manner Specialty Medical genetics, Pediatry Symptoms brain malformations Complications Death Usual onset Pre-natal Duration The rest or the baby's generally short life Causes Problems during embryogenesis Prevention [wikiwand.com]