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]

• Painful Cough

  Common symptoms of problems in the respiratory system include chronic cough, shortness of breath, chronic chest pain, coughing up blood, and chronic mucus production. Diseases of the respiratory system may be diagnosed and treated by a pulmonologist. [rarediseases.info.nih.gov]

• Cough

  Common symptoms of problems in the respiratory system include chronic cough, shortness of breath, chronic chest pain, coughing up blood, and chronic mucus production. Diseases of the respiratory system may be diagnosed and treated by a pulmonologist. [rarediseases.info.nih.gov]

• Chronic Cough

  Common symptoms of problems in the respiratory system include chronic cough, shortness of breath, chronic chest pain, coughing up blood, and chronic mucus production. Diseases of the respiratory system may be diagnosed and treated by a pulmonologist. [rarediseases.info.nih.gov]

• Jaundice

  After being born, additional symptoms were seen, and the baby developed severe jaundice and petechia throughout his body and died hours later.[8] References[edit] ^ "Morse-Rawnsley-Sargent syndrome". ^ RESERVED, INSERM US14-- ALL RIGHTS. [en.wikipedia.org]

  Microcephaly + + + + + Holoprosencephaly + + + + + IUGR + + + + + Micrognathia + NR NR NR + Prominent lateral gengival ridges + NR NR NR + Muscular atrophy of lower limbs + + NR NR + Male gender + + + + + Karyotype 46,XY + + + NR + Skin abnormalities - - - - Jaundice [thefetus.net]

• Chest Pain

  Common symptoms of problems in the respiratory system include chronic cough, shortness of breath, chronic chest pain, coughing up blood, and chronic mucus production. Diseases of the respiratory system may be diagnosed and treated by a pulmonologist. [rarediseases.info.nih.gov]

• 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]

• Petechiae

  After being born, additional symptoms were seen, and the baby developed severe jaundice and petechia throughout his body and died hours later.[8] References[edit] ^ "Morse-Rawnsley-Sargent syndrome". ^ RESERVED, INSERM US14-- ALL RIGHTS. [en.wikipedia.org]

  + + Holoprosencephaly + + + + + IUGR + + + + + Micrognathia + NR NR NR + Prominent lateral gengival ridges + NR NR NR + Muscular atrophy of lower limbs + + NR NR + Male gender + + + + + Karyotype 46,XY + + + NR + Skin abnormalities - - - - Jaundice, petechias [thefetus.net]

• Hyperkeratosis

  Morse suspected this to be a case of Neu–Laxova syndrome, however; hyperkeratosis, ichthyosis, facial dysmorphy, distal limb swelling were absent in the fetuses, and the presence of holoprosencephaly clearly made this case unique from the already-mentioned [en.wikipedia.org]

• Keratosis

  Juvenile Huntington disease Juvenile polymyositis Juvenile primary lateral sclerosis Kabuki syndrome Kanzaki disease Kapur Toriello syndrome Kaufman oculocerebrofacial syndrome KBG syndrome KCNQ2-Related Disorders Kearns-Sayre syndrome Kennedy disease Keratosis [braintherapeutics.gr]

• 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]

(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]